Progeria classification: Difference between revisions
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{{CMG}}; {{AE}} {{VKG}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
Progeria may be classified according to genotype into two groups:Classic progeria and atypical progeria. | [[Progeria]] may be classified according to [[genotype]] into two groups: Classic [[progeria]] and atypical [[progeria]]. | ||
==Classification== | ==Classification== | ||
Progeria may be classified according to genotype into two groups: | *[[Progeria]] may be classified according to [[genotype]] into two groups:<ref name="pmid20301300">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301300 | doi= | pmc= | url= }}</ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
| | |'''Group''' | ||
|'''Classification of Hutchinson-Gilford Progeria Syndrome''' | |'''Classification of Hutchinson-Gilford Progeria Syndrome''' | ||
| '''Cause''' | | '''Cause''' | ||
|- | |- | ||
|Group 1 | |Group 1 | ||
|Classic Hutchinson-Gilford progeria syndrome | |Classic [[Hutchinson-Gilford progeria syndrome]] | ||
|Due to nucleotide substitution in the lamin A/C gene ''LMNA''(c.1824C>T [p.Gly608Gly]) | |Due to [[nucleotide]] substitution in the [[Lamin A|lamin]] A/C gene ''[[LMNA]]''(c.1824C>T [p.Gly608Gly]) | ||
|- | |- | ||
|Group 2 | |Group 2 | ||
|Atypical Hutchinson-Gilford progeria syndrome | |Atypical [[Hutchinson-Gilford progeria syndrome]] | ||
|Due to variety of pathogenic variants in intron 11 of the ''LMNA'' gene | |Due to a variety of pathogenic variants in [[intron]] 11 of the ''[[LMNA]]'' [[gene]] | ||
|} | |} | ||
* Other '''Non-progeroid laminopathies''' associated with ''[[LMNA]]'' [[gene mutation]]<nowiki/>s which produces atypical or truncated [[protein A]] [[Lamin A|lamin]]:<ref name="pmid20301609">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301609 | doi= | pmc= | url= }}</ref><ref name="pmid18513784">{{cite journal| author=Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A et al.| title=HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches. | journal=Mech Ageing Dev | year= 2008 | volume= 129 | issue= 7-8 | pages= 449-59 | pmid=18513784 | doi=10.1016/j.mad.2008.04.003 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18513784 }}</ref><ref name="pmid26948039">{{cite journal| author=Ikeda Y, Kumagai H, Motozawa Y, Suzuki J, Akazawa H, Komuro I| title=Understanding Vascular Diseases: Lessons From Premature Aging Syndromes. | journal=Can J Cardiol | year= 2016 | volume= 32 | issue= 5 | pages= 650-8 | pmid=26948039 | doi=10.1016/j.cjca.2015.12.003 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26948039 }}</ref><ref name="pmid12927431">{{cite journal| author=Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y et al.| title=LMNA mutations in atypical Werner's syndrome. | journal=Lancet | year= 2003 | volume= 362 | issue= 9382 | pages= 440-5 | pmid=12927431 | doi=10.1016/S0140-6736(03)14069-X | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12927431 }}</ref><ref name="pmid11799477">{{cite journal| author=De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N et al.| title=Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. | journal=Am J Hum Genet | year= 2002 | volume= 70 | issue= 3 | pages= 726-36 | pmid=11799477 | doi=10.1086/339274 | pmc=384949 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11799477 }}</ref><ref name="pmid18611980">{{cite journal| author=Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L et al.| title=Heart-hand syndrome of Slovenian type: a new kind of laminopathy. | journal=J Med Genet | year= 2008 | volume= 45 | issue= 10 | pages= 666-71 | pmid=18611980 | doi=10.1136/jmg.2008.060020 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18611980 }}</ref><ref name="pmid15479179">{{cite journal| author=Pollex RL, Hegele RA| title=Hutchinson-Gilford progeria syndrome. | journal=Clin Genet | year= 2004 | volume= 66 | issue= 5 | pages= 375-81 | pmid=15479179 | doi=10.1111/j.1399-0004.2004.00315.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15479179 }}</ref> | |||
**[[Emery-Dreifuss muscular dystrophy]]([[Autosomal dominant]]) | |||
**[[Emery-Dreifuss muscular dystrophy]]([[Autosomal recessive]]) | |||
**[[Familial dilated cardiomyopathy]]([[Autosomal dominant]]) | |||
**[[Dilated cardiomyopathy]] and hypergonadotropic [[hypogonadism]] | |||
**[[Dilated cardiomyopathy]] with apical left [[ventricular]] [[aneurysm]]([[Autosomal dominant]]) | |||
** Mandibuloacral [[dysplasia]]([[Autosomal recessive]])<ref name="pmid29208544">{{cite journal| author=Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C et al.| title=Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing. | journal=Ageing Res Rev | year= 2018 | volume= 42 | issue= | pages= 1-13 | pmid=29208544 | doi=10.1016/j.arr.2017.12.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29208544 }}</ref> | |||
**[[Heart-hand syndrome]], Slovenian type | |||
**Petty-Laxova-Wiedemann progeroid syndrome<ref name="pmid19725131">{{cite journal| author=Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML et al.| title=Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 10 | pages= 2200-5 | pmid=19725131 | doi=10.1002/ajmg.a.32884 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19725131 }}</ref> | |||
**[[Charcot-Marie-Tooth disease|Charcot-Marie-Tooth]] type 2B1 | |||
**[[Restrictive dermopathy]]<ref name="pmid26290387">{{cite journal| author=McKenna T, Sola Carvajal A, Eriksson M| title=Skin Disease in Laminopathy-Associated Premature Aging. | journal=J Invest Dermatol | year= 2015 | volume= 135 | issue= 11 | pages= 2577-2583 | pmid=26290387 | doi=10.1038/jid.2015.295 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26290387 }}</ref><ref name="pmid9606327">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327 }}</ref> | |||
**[[Familial partial lipodystrophy, Köbberling type|Familial partial lipodystrophy]] type 2 | |||
** Dunnigan-type [[Familial partial lipodystrophy type 1|familial partial lipodystrophy]] (FPLD), ([[Autosomal dominant]]) | |||
**[[Limb-girdle muscular dystrophy]]<ref name="pmid21496626">{{cite journal| author=Gallardo E, Saenz A, Illa I| title=Limb-girdle muscular dystrophy 2A. | journal=Handb Clin Neurol | year= 2011 | volume= 101 | issue= | pages= 97-110 | pmid=21496626 | doi=10.1016/B978-0-08-045031-5.00006-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21496626 }}</ref> | |||
**[[Malouf syndrome]] with hypergonadotropic [[hypogonadism]] and [[cardiomyopathy]]<ref name="pmid3993676">{{cite journal| author=Malouf J, Alam S, Kanj H, Mufarrij A, Der Kaloustian VM| title=Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder? | journal=Am J Med Genet | year= 1985 | volume= 20 | issue= 3 | pages= 483-9 | pmid=3993676 | doi=10.1002/ajmg.1320200309 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3993676 }}</ref> | |||
==References== | ==References== | ||
Latest revision as of 17:11, 30 July 2019
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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]
Overview
Progeria may be classified according to genotype into two groups: Classic progeria and atypical progeria.
Classification
| Group | Classification of Hutchinson-Gilford Progeria Syndrome | Cause |
| Group 1 | Classic Hutchinson-Gilford progeria syndrome | Due to nucleotide substitution in the lamin A/C gene LMNA(c.1824C>T [p.Gly608Gly]) |
| Group 2 | Atypical Hutchinson-Gilford progeria syndrome | Due to a variety of pathogenic variants in intron 11 of the LMNA gene |
- Other Non-progeroid laminopathies associated with LMNA gene mutations which produces atypical or truncated protein A lamin:[2][3][4][5][6][7][8]
- Emery-Dreifuss muscular dystrophy(Autosomal dominant)
- Emery-Dreifuss muscular dystrophy(Autosomal recessive)
- Familial dilated cardiomyopathy(Autosomal dominant)
- Dilated cardiomyopathy and hypergonadotropic hypogonadism
- Dilated cardiomyopathy with apical left ventricular aneurysm(Autosomal dominant)
- Mandibuloacral dysplasia(Autosomal recessive)[9]
- Heart-hand syndrome, Slovenian type
- Petty-Laxova-Wiedemann progeroid syndrome[10]
- Charcot-Marie-Tooth type 2B1
- Restrictive dermopathy[11][12]
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD), (Autosomal dominant)
- Limb-girdle muscular dystrophy[13]
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy[14]
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301609.
- ↑ Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A; et al. (2008). "HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches". Mech Ageing Dev. 129 (7–8): 449–59. doi:10.1016/j.mad.2008.04.003. PMID 18513784.
- ↑ Ikeda Y, Kumagai H, Motozawa Y, Suzuki J, Akazawa H, Komuro I (2016). "Understanding Vascular Diseases: Lessons From Premature Aging Syndromes". Can J Cardiol. 32 (5): 650–8. doi:10.1016/j.cjca.2015.12.003. PMID 26948039.
- ↑ Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y; et al. (2003). "LMNA mutations in atypical Werner's syndrome". Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431.
- ↑ De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N; et al. (2002). "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse". Am J Hum Genet. 70 (3): 726–36. doi:10.1086/339274. PMC 384949. PMID 11799477.
- ↑ Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L; et al. (2008). "Heart-hand syndrome of Slovenian type: a new kind of laminopathy". J Med Genet. 45 (10): 666–71. doi:10.1136/jmg.2008.060020. PMID 18611980.
- ↑ Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
- ↑ Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C; et al. (2018). "Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing". Ageing Res Rev. 42: 1–13. doi:10.1016/j.arr.2017.12.001. PMID 29208544.
- ↑ Delgado-Luengo WN, Petty EM, Solís-Añez E, Römel O, Delgado-Luengo J, Hernández ML; et al. (2009). "Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging". Am J Med Genet A. 149A (10): 2200–5. doi:10.1002/ajmg.a.32884. PMID 19725131.
- ↑ McKenna T, Sola Carvajal A, Eriksson M (2015). "Skin Disease in Laminopathy-Associated Premature Aging". J Invest Dermatol. 135 (11): 2577–2583. doi:10.1038/jid.2015.295. PMID 26290387.
- ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
- ↑ Gallardo E, Saenz A, Illa I (2011). "Limb-girdle muscular dystrophy 2A". Handb Clin Neurol. 101: 97–110. doi:10.1016/B978-0-08-045031-5.00006-2. PMID 21496626.
- ↑ Malouf J, Alam S, Kanj H, Mufarrij A, Der Kaloustian VM (1985). "Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?". Am J Med Genet. 20 (3): 483–9. doi:10.1002/ajmg.1320200309. PMID 3993676.