Progeria classification: Difference between revisions
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* 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> | * 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 dominant]]) | ||
**[[Emery-Dreifuss muscular dystrophy]]([[Autosomal recessive]]) | **[[Emery-Dreifuss muscular dystrophy]]([[Autosomal recessive]]) | ||
Revision as of 14:58, 11 July 2019
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Progeria Microchapters |
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Case Studies |
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Progeria classification On the Web |
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American Roentgen Ray Society Images of Progeria classification |
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Risk calculators and risk factors for Progeria classification |
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)
- Heart-hand syndrome, Slovenian type
- Charcot-Marie-Tooth type 2B1
- Restrictive dermopathy[9]
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD), (Autosomal dominant)
- Limb-girdle muscular dystrophy[10]
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy[11]
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.
- ↑ 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.
- ↑ 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.