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:
  • 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
  • Familial partial lipodystrophy type 2
  • Dunnigan-type familial partial lipodystrophy (FPLD)
  • Limb-girdle muscular dystrophy
  • Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy