Progeria classification: Difference between revisions
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* Other '''Non-progeroid laminopathies''' associated with ''LMNA'' gene mutations which produces atypical protein 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> | * Other '''Non-progeroid laminopathies''' associated with ''LMNA'' gene mutations which produces atypical protein 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> | ||
** 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 15:25, 5 July 2019
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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
- Progeria may be classified according to genotype into two groups:
| 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 variety of pathogenic variants in intron 11 of the LMNA gene |
- Other Non-progeroid laminopathies associated with LMNA gene mutations which produces atypical protein A lamin:[1][2]
- 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)
- Restrictive dermopathy[3]
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD)
- Limb-girdle muscular dystrophy
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy
References
- ↑ 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.
- ↑ 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.