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*** Deformed [[midbrain]] and pontomesencephalic junction
*** Deformed [[midbrain]] and pontomesencephalic junction
*** [[Prenatal]] [[Magnetic resonance imaging|MRI]] of the fetal brain can help in [[diagnosis]] of joubert syndrome<ref name="pmid16900929">{{cite journal |vauthors=Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C |title=Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders |journal=J. Child Neurol. |volume=21 |issue=4 |pages=320–4 |date=April 2006 |pmid=16900929 |doi=10.1177/08830738060210041001 |url=}}</ref><ref name="pmid21370303">{{cite journal |vauthors=Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H |title=Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome |journal=Ultrasound Obstet Gynecol |volume=38 |issue=5 |pages=598–602 |date=November 2011 |pmid=21370303 |doi=10.1002/uog.8979 |url=}}</ref>
*** [[Prenatal]] [[Magnetic resonance imaging|MRI]] of the fetal brain can help in [[diagnosis]] of joubert syndrome<ref name="pmid16900929">{{cite journal |vauthors=Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C |title=Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders |journal=J. Child Neurol. |volume=21 |issue=4 |pages=320–4 |date=April 2006 |pmid=16900929 |doi=10.1177/08830738060210041001 |url=}}</ref><ref name="pmid21370303">{{cite journal |vauthors=Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H |title=Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome |journal=Ultrasound Obstet Gynecol |volume=38 |issue=5 |pages=598–602 |date=November 2011 |pmid=21370303 |doi=10.1002/uog.8979 |url=}}</ref>
[[File:Molar tooth sign and hypoplasia of the cerebellar vermis in Joubert syndrome.gif|alt=Molar tooth sign|center|thumb|651x651px|Molar tooth sign(A) and (B)hypoplasia of the cerebellar vermis (arrows). Case courtesy by Dr. Manohar M. Shroff Et Al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765171/|title=Twenty classic signs in neuroradiology: A pictorial essay|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
[[File:Molar tooth sign and hypoplasia of the cerebellar vermis in Joubert syndrome.gif|alt=Molar tooth sign|center|thumb|651x651px|Molar tooth sign(A) and (B)[[hypoplasia]] of the [[cerebellar vermis]] (arrows). Case courtesy by Dr. Manohar M. Shroff Et Al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765171/|title=Twenty classic signs in neuroradiology: A pictorial essay|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]


== Medical therapy ==
== Medical therapy ==

Latest revision as of 11:30, 3 June 2019

Joubert syndrome
ICD-10 Q04.3
ICD-9 742.2
DiseasesDB 30688

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and Keywords: Cerebelloparenchymal disorder 4; Cerebellar vermis agenesis; Joubert-Boltshauser syndrome; JBTS1; CPD4; Cerebellooculorenal syndrome 1; CORS1; Joubert syndrome 1

Overview

Joubert syndrome is a rare genetic disorder that affects the areas of the cerebellar vermis and brain stem in the brain that controls balance and coordination. Joubert syndrome follows autosomal recessive pattern of inheritance. In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical perspective

  • In year 1955, the first reported cases of Joubert syndrome which are partial agenesis of the vermis of the cerebellum was collected by De Haene.[1]
  • In year 1969, Joubert syndrome was first discovered in in four siblings by Dr. Marie Joubert et al.[2][3]
  • In year 1977, Joubert syndrome name was first suggested by Boltshauser and Isler.
  • In year 1978, Friede and Boltshauser are the first to describe neuropathologic findings in one patient with joubert syndrome.[4][5]
  • In year 1978, Boltshauser et al are the first first to describe two sisters who are having joubert syndrome whose parents were consanguineous.[6][7]

Classification

  • Joubert syndrome may be classified according to gene location of the mutation into many subtypes of these JBTS1 and JBTS2 are the most common and important subtypes:[8][9][10]
Phenotype Location of mutation Gene involved Inheritance pattern
JOUBERT SYNDROME 1(JBTS1) 9q34.3 INPP5E Autosomal recessive
JOUBERT SYNDROME 2(JBTS2) 11q12.2 TMEM216 Autosomal recessive

Pathophysiology

INPP5E (Inositol polyphosphate-5-phosphatase E)

TMEM216(Transmembrane protein 216)

AHI1(Abelson Helper Integration Site 1)

NPHP1(Nephrocystin 1)

CEP290(Centrosomal protein 290)

TMEM67(Transmembrane protein 67) / MKS3(Transmembrane protein meckelin)

RPGRIP1L

ARL13B

CC2D2A

Causes

Genetic Causes

Differentiating joubert syndrome from other Diseases

Epidemiology and Demographics

Incidence

  • The incidence of joubert syndrome is approximately 1 per 80,000 individuals to 1 per 100,000 individuals worldwide.[58][59][60]
  • Till now only 200 cases of joubert syndrome were published in the literature.

Prevalence

  • The prevalence of joubert syndrome is approximately 1 per 100,000 in the United States.[61]

Age

  • Joubert syndrome commonly affects newborns in the first 6 months of life.

Risk Factors

Physical Examination

HEENT

Bilateral abducens nerve palsy
Bilateral abducens nerve palsy and developmental delay in joubert syndrome. Case courtesy by Javad Akhondian, MD Et Al[70]
Joubert syndrome patient with strabismus and large forehead
Joubert syndrome patient with strabismus (Yellow arrow) and a large forehead(Green arrow).Case courtesy by Javad Akhondian Et Al[71]
Joubert syndrome
Joubert syndrome-Broadened bridge of the nose and an open mouth. Case courtesy by Richa Arora Et Al [72]

Lungs

Neuromuscular

Natural History, Complications, and Prognosis

Natural History

Complications

Common complications of joubert syndrome include:[94]

Prognosis

Diagnostic Study of Choice

Joubert syndrome-Molar tooth sign(A), occipital encephalocele(B)
Joubert syndrome-Molar tooth sign(A), occipital encephalocele(B). case courtesy by Mohammed Z. Seidahmed Et Al [102]
Molar tooth sign
Molar tooth sign(A) and (B)hypoplasia of the cerebellar vermis (arrows). Case courtesy by Dr. Manohar M. Shroff Et Al[114]

Medical therapy

Surgery

References

  1. ↑ Stoffels, C.; Babin, E. (1976). "Angiography of incomplete lobulation of the cerebellar vermis with small fourth ventricle associated with callosal hypoplasia". Neuroradiology. 11 (2): 99–102. doi:10.1007/BF00345021. ISSN 0028-3940.
  2. ↑ Boltshauser E, Isler W (February 1977). "Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis". Neuropadiatrie. 8 (1): 57–66. doi:10.1055/s-0028-1091505. PMID 576733.
  3. ↑ Boltshauser, E.; Isler, W. (2008). "Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis". Neuropediatrics. 8 (01): 57–66. doi:10.1055/s-0028-1091505. ISSN 0174-304X.
  4. ↑ Friede RL, Boltshauser E (December 1978). "Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome". Dev Med Child Neurol. 20 (6): 758–63. PMID 729929.
  5. ↑ Friede, R. L.; Boltshauser, E. (2008). "Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome". Developmental Medicine & Child Neurology. 20 (6): 758–763. doi:10.1111/j.1469-8749.1978.tb15307.x. ISSN 0012-1622.
  6. ↑ Al-Gazali L, Hamamy H (2014). "Consanguinity and dysmorphology in Arabs". Hum. Hered. 77 (1–4): 93–107. doi:10.1159/000360421. PMID 25060273.
  7. ↑ Al-Gazali L, Ali BR (May 2010). "Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)". Hum. Mutat. 31 (5): 505–20. doi:10.1002/humu.21232. PMID 20437613.
  8. ↑ Valente, Enza Maria; Marsh, Sarah E.; Castori, Marco; Dixon-Salazar, Tracy; Bertini, Enrico; Al-Gazali, Lihadh; Messer, Jean; Barbot, Clara; Woods, C. Geoffrey; Boltshauser, Eugen; Al-Tawari, Asma A.; Salpietro, Carmelo D.; Kayserili, Hulya; Sztriha, L�szl�; Gribaa, Moez; Koenig, Michel; Dallapiccola, Bruno; Gleeson, Joseph G. (2005). "Distinguishing the four genetic causes of jouberts syndrome-related disorders". Annals of Neurology. 57 (4): 513–519. doi:10.1002/ana.20422. ISSN 0364-5134. replacement character in |first14= at position 2 (help)
  9. ↑ Saraiva, Jorge M.; Baraitser, Michael (1992). "Joubert syndrome: A review". American Journal of Medical Genetics. 43 (4): 726–731. doi:10.1002/ajmg.1320430415. ISSN 0148-7299.
  10. ↑ Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D (August 2015). "Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity". J. Med. Genet. 52 (8): 514–22. doi:10.1136/jmedgenet-2015-103087. PMC 5082428. PMID 26092869. Vancouver style error: name (help)
  11. ↑ Parisi MA (November 2009). "Clinical and molecular features of Joubert syndrome and related disorders". Am J Med Genet C Semin Med Genet. 151C (4): 326–40. doi:10.1002/ajmg.c.30229. PMC 2797758. PMID 19876931.
  12. ↑ Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D (October 2009). "Expanding CEP290 mutational spectrum in ciliopathies". Am. J. Med. Genet. A. 149A (10): 2173–80. doi:10.1002/ajmg.a.33025. PMC 4340070. PMID 19764032.
  13. ↑ Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG (April 2005). "Distinguishing the four genetic causes of Jouberts syndrome-related disorders". Ann. Neurol. 57 (4): 513–9. doi:10.1002/ana.20422. PMID 15786477.
  14. ↑ Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D (January 2016). "MKS1 regulates ciliary INPP5E levels in Joubert syndrome". J. Med. Genet. 53 (1): 62–72. doi:10.1136/jmedgenet-2015-103250. PMC 5060087. PMID 26490104.
  15. ↑ Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R (December 1999). "Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity". Am. J. Hum. Genet. 65 (6): 1666–71. doi:10.1086/302655. PMC 1288377. PMID 10577920.
  16. ↑ Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG (September 2009). "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies". Nat. Genet. 41 (9): 1032–6. doi:10.1038/ng.423. PMC 2746682. PMID 19668216.
  17. ↑ Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S (September 2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse". Nat. Genet. 41 (9): 1027–31. doi:10.1038/ng.427. PMID 19668215.
  18. ↑ Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M (April 2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". J. Med. Genet. 41 (4): 273–7. doi:10.1136/jmg.2003.014787. PMC 1735723. PMID 15060101.
  19. ↑ Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG (March 2006). "AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders". Ann. Neurol. 59 (3): 527–34. doi:10.1002/ana.20749. PMID 16453322.
  20. ↑ Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ (May 2013). "The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions". J. Biol. Chem. 288 (19): 13676–94. doi:10.1074/jbc.M112.420786. PMC 3650405. PMID 23532844.
  21. ↑ Louie CM, Gleeson JG (October 2005). "Genetic basis of Joubert syndrome and related disorders of cerebellar development". Hum. Mol. Genet. 14 Spec No. 2: R235–42. doi:10.1093/hmg/ddi264. PMID 16244321.
  22. ↑ Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT (January 2016). "Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping". BMC Med. Genet. 17: 1. doi:10.1186/s12881-015-0265-z. PMC 4700600. PMID 26729329.
  23. ↑ Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G (February 2016). "Joubert syndrome: genotyping a Northern European patient cohort". Eur. J. Hum. Genet. 24 (2): 214–20. doi:10.1038/ejhg.2015.84. PMC 4717206. PMID 25920555.
  24. ↑ Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA (April 2006). "AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome". J. Med. Genet. 43 (4): 334–9. doi:10.1136/jmg.2005.036608. PMC 2563230. PMID 16155189.
  25. ↑ Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG (December 2004). "Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria". Am. J. Hum. Genet. 75 (6): 979–87. doi:10.1086/425985. PMC 1182159. PMID 15467982.
  26. ↑ Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (October 1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nat. Genet. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933.
  27. ↑ Otto E, Betz R, Rensing C, Schätzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F (September 2000). "A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints". Hum. Mutat. 16 (3): 211–23. doi:10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y. PMID 10980528.
  28. ↑ Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S (May 2007). "High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations". J. Am. Soc. Nephrol. 18 (5): 1566–75. doi:10.1681/ASN.2006101164. PMID 17409309.
  29. ↑ Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA (July 2004). "The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome". Am. J. Hum. Genet. 75 (1): 82–91. doi:10.1086/421846. PMC 1182011. PMID 15138899.
  30. ↑ Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C (March 2000). "Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis". Am. J. Hum. Genet. 66 (3): 778–89. doi:10.1086/302819. PMC 1288163. PMID 10712196.
  31. ↑ Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C (March 1996). "Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis". Hum. Mol. Genet. 5 (3): 367–71. PMID 8852662.
  32. ↑ Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB (October 1999). "Clinical nosologic and genetic aspects of Joubert and related syndromes". J. Child Neurol. 14 (10): 660–6, discussion 669–72. doi:10.1177/088307389901401007. PMID 10511339.
  33. ↑ Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ (2008). "DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands". Eur J Med Genet. 51 (1): 24–34. doi:10.1016/j.ejmg.2007.10.001. PMID 18054307.
  34. ↑ Parisi MA, Doherty D, Chance PF, Glass IA (May 2007). "Joubert syndrome (and related disorders) (OMIM 213300)". Eur. J. Hum. Genet. 15 (5): 511–21. doi:10.1038/sj.ejhg.5201648. PMID 17377524.
  35. ↑ Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N (December 2016). "Molecular genetic analysis of 30 families with Joubert syndrome". Clin. Genet. 90 (6): 526–535. doi:10.1111/cge.12836. PMID 27434533.
  36. ↑ Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D (October 2009). "Expanding CEP290 mutational spectrum in ciliopathies". Am. J. Med. Genet. A. 149A (10): 2173–80. doi:10.1002/ajmg.a.33025. PMC 4340070. PMID 19764032.
  37. ↑ Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ (2008). "DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands". Eur J Med Genet. 51 (1): 24–34. doi:10.1016/j.ejmg.2007.10.001. PMID 18054307.
  38. ↑ Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O (August 2016). "MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum". Eur J Med Genet. 59 (8): 386–91. doi:10.1016/j.ejmg.2016.06.007. PMID 27377014.
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  40. ↑ Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N (December 2016). "Molecular genetic analysis of 30 families with Joubert syndrome". Clin. Genet. 90 (6): 526–535. doi:10.1111/cge.12836. PMID 27434533.
  41. ↑ Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ (2008). "DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands". Eur J Med Genet. 51 (1): 24–34. doi:10.1016/j.ejmg.2007.10.001. PMID 18054307.
  42. ↑ Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N (December 2016). "Molecular genetic analysis of 30 families with Joubert syndrome". Clin. Genet. 90 (6): 526–535. doi:10.1111/cge.12836. PMID 27434533.
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  78. ↑ Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC (2001). "[Joubert's syndrome: report of 12 cases]". Rev Neurol (in Spanish; Castilian). 32 (9): 812–7. PMID 11424029.
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  82. ↑ Valente EM, Brancati F, Dallapiccola B (2008). "Genotypes and phenotypes of Joubert syndrome and related disorders". Eur J Med Genet. 51 (1): 1–23. doi:10.1016/j.ejmg.2007.11.003. PMID 18164675.
  83. ↑ Steinlin M, Schmid M, Landau K, Boltshauser E (August 1997). "Follow-up in children with Joubert syndrome". Neuropediatrics. 28 (4): 204–11. doi:10.1055/s-2007-973701. PMID 9309710.
  84. ↑ Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC (2001). "[Joubert's syndrome: report of 12 cases]". Rev Neurol (in Spanish; Castilian). 32 (9): 812–7. PMID 11424029.
  85. ↑ Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O (August 2016). "MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum". Eur J Med Genet. 59 (8): 386–91. doi:10.1016/j.ejmg.2016.06.007. PMID 27377014.
  86. ↑ Friede RL, Boltshauser E (December 1978). "Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome". Dev Med Child Neurol. 20 (6): 758–63. PMID 729929.
  87. ↑ Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM (August 2007). "Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome". Am. J. Med. Genet. A. 143A (15): 1715–25. doi:10.1002/ajmg.a.31832. PMID 17603801.
  88. ↑ Maria BL, Boltshauser E, Palmer SC, Tran TX (September 1999). "Clinical features and revised diagnostic criteria in Joubert syndrome". J. Child Neurol. 14 (9): 583–90, discussion 590–1. doi:10.1177/088307389901400906. PMID 10488903.
  89. ↑ Brancati F, Dallapiccola B, Valente EM (July 2010). "Joubert Syndrome and related disorders". Orphanet J Rare Dis. 5: 20. doi:10.1186/1750-1172-5-20. PMC 2913941. PMID 20615230.
  90. ↑ Parisi MA, Doherty D, Chance PF, Glass IA (May 2007). "Joubert syndrome (and related disorders) (OMIM 213300)". Eur. J. Hum. Genet. 15 (5): 511–21. doi:10.1038/sj.ejhg.5201648. PMID 17377524.
  91. ↑ Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC (2001). "[Joubert's syndrome: report of 12 cases]". Rev Neurol (in Spanish; Castilian). 32 (9): 812–7. PMID 11424029.
  92. ↑ Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC (2001). "[Joubert's syndrome: report of 12 cases]". Rev Neurol (in Spanish; Castilian). 32 (9): 812–7. PMID 11424029.
  93. ↑ Fennell EB, Gitten JC, Dede DE, Maria BL (September 1999). "Cognition, behavior, and development in Joubert syndrome". J. Child Neurol. 14 (9): 592–6. doi:10.1177/088307389901400907. PMID 10488904.
  94. ↑ Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM (August 2007). "Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome". Am. J. Med. Genet. A. 143A (15): 1715–25. doi:10.1002/ajmg.a.31832. PMID 17603801.
  95. ↑ Yachnis AT, Rorke LB (October 1999). "Neuropathology of Joubert syndrome". J. Child Neurol. 14 (10): 655–9, discussion 669–72. doi:10.1177/088307389901401006. PMID 10511338.
  96. ↑ Yachnis AT, Rorke LB (September 1999). "Cerebellar and brainstem development: an overview in relation to Joubert syndrome". J. Child Neurol. 14 (9): 570–3. doi:10.1177/088307389901400904. PMID 10488901.
  97. ↑ Friede RL, Boltshauser E (December 1978). "Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome". Dev Med Child Neurol. 20 (6): 758–63. PMID 729929.
  98. ↑ Maria BL, Boltshauser E, Palmer SC, Tran TX (September 1999). "Clinical features and revised diagnostic criteria in Joubert syndrome". J. Child Neurol. 14 (9): 583–90, discussion 590–1. doi:10.1177/088307389901400906. PMID 10488903.
  99. ↑ Ahmed J, Ali US (July 2011). "Joubert syndrome with nephronophthisis in neurofibromatosis type 1". Saudi J Kidney Dis Transpl. 22 (4): 788–91. PMID 21743231.
  100. ↑ Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing P, Malicdan M, Gahl WA, Gunay-Aygun M (August 2017). "Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center". Genet. Med. 19 (8): 875–882. doi:10.1038/gim.2016.204. PMID 28125082. Vancouver style error: initials (help)
  101. ↑ Brancati F, Dallapiccola B, Valente EM (July 2010). "Joubert Syndrome and related disorders". Orphanet J Rare Dis. 5: 20. doi:10.1186/1750-1172-5-20. PMC 2913941. PMID 20615230.
  102. ↑ "Genetic, chromosomal, and syndromic causes of neural tube defects".
  103. ↑ Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B (October 1997). ""Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation". J. Child Neurol. 12 (7): 423–30. doi:10.1177/088307389701200703. PMID 9373798.
  104. ↑ Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E (June 1999). "Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance". J. Child Neurol. 14 (6): 368–76. doi:10.1177/088307389901400605. PMID 10385844.
  105. ↑ Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM (August 2007). "Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome". Am. J. Med. Genet. A. 143A (15): 1715–25. doi:10.1002/ajmg.a.31832. PMID 17603801.
  106. ↑ Maria BL, Boltshauser E, Palmer SC, Tran TX (September 1999). "Clinical features and revised diagnostic criteria in Joubert syndrome". J. Child Neurol. 14 (9): 583–90, discussion 590–1. doi:10.1177/088307389901400906. PMID 10488903.
  107. ↑ Parisi MA, Doherty D, Chance PF, Glass IA (May 2007). "Joubert syndrome (and related disorders) (OMIM 213300)". Eur. J. Hum. Genet. 15 (5): 511–21. doi:10.1038/sj.ejhg.5201648. PMID 17377524.
  108. ↑ Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB (October 1999). "Clinical nosologic and genetic aspects of Joubert and related syndromes". J. Child Neurol. 14 (10): 660–6, discussion 669–72. doi:10.1177/088307389901401007. PMID 10511339.
  109. ↑ Quisling RG, Barkovich AJ, Maria BL (October 1999). "Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome". J. Child Neurol. 14 (10): 628–35, discussion 669–72. doi:10.1177/088307389901401002. PMID 10511334.
  110. ↑ Tusa RJ, Hove MT (October 1999). "Ocular and oculomotor signs in Joubert syndrome". J. Child Neurol. 14 (10): 621–7. doi:10.1177/088307389901401001. PMID 10511333.
  111. ↑ Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing P, Malicdan M, Gahl WA, Gunay-Aygun M (August 2017). "Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center". Genet. Med. 19 (8): 875–882. doi:10.1038/gim.2016.204. PMID 28125082. Vancouver style error: initials (help)
  112. ↑ Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C (April 2006). "Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders". J. Child Neurol. 21 (4): 320–4. doi:10.1177/08830738060210041001. PMID 16900929.
  113. ↑ Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H (November 2011). "Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome". Ultrasound Obstet Gynecol. 38 (5): 598–602. doi:10.1002/uog.8979. PMID 21370303.
  114. ↑ "Twenty classic signs in neuroradiology: A pictorial essay".
  115. ↑ Brancati F, Dallapiccola B, Valente EM (July 2010). "Joubert Syndrome and related disorders". Orphanet J Rare Dis. 5: 20. doi:10.1186/1750-1172-5-20. PMC 2913941. PMID 20615230.
  116. ↑ Buke B, Canverenler E, İpek G, Canverenler S, Akkaya H (April 2017). "Diagnosis of Joubert syndrome via ultrasonography". J Med Ultrason (2001). 44 (2): 197–202. doi:10.1007/s10396-016-0751-8. PMID 27785575.
  117. ↑ Valente EM, Dallapiccola B, Bertini E (2013). "Joubert syndrome and related disorders". Handb Clin Neurol. 113: 1879–88. doi:10.1016/B978-0-444-59565-2.00058-7. PMID 23622411.
  118. ↑ Goswami M, Rajwar AS, Verma M (2016). "Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome". Int J Clin Pediatr Dent. 9 (4): 379–383. doi:10.5005/jp-journals-10005-1394. PMC 5233707. PMID 28127172.
  119. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Parisi M, Glass I. PMID 20301500. Vancouver style error: initials (help); Missing or empty |title= (help)
  120. ↑ Habre W, Sims C, D'Souza M (1997). "Anaesthetic management of children with Joubert syndrome". Paediatr Anaesth. 7 (3): 251–3. doi:10.1046/j.1460-9592.1997.d01-65.x. PMID 9189974.
  121. ↑ Habre, Walid; Sims, Craig; D’Souza, Michael (1997). "Anaesthetic management of children with Joubert syndrome". Pediatric Anesthesia. 7 (3): 251–253. doi:10.1046/j.1460-9592.1997.d01-65.x. ISSN 1155-5645.
  122. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Parisi M, Glass I. PMID 20301500. Vancouver style error: initials (help); Missing or empty |title= (help)

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