Progeria classification
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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
- 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]
- 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[2]
- 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.
- ↑ 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.