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An inherited LMNA gene mutation in atypical Progeria syndrome
Author(s) -
Doubaj Yassamine,
De SandreGiovannoli Annachiara,
Vera EstevesVieira,
Navarro Claire Laure,
Elalaoui Siham Chafai,
Tajir Mariam,
Lévy Nicolas,
Sefiani Abdelaziz
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35557
Subject(s) - progeria , lmna , premature aging , lamin , genetics , mutation , compound heterozygosity , biology , medicine , dermatology , gene
Hutchinson–Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene ( LMNA ). Besides “typical HGPS,” several “atypical progeria” syndromes (APS) have been described, in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, and in some cases severe atherosclerosis with metabolic complications. APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in Nestor–Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non‐consanguineous Moroccan patient presenting with atypical progeria. The molecular studies showed the heterozygous mutation c.412G>A (p.Glu138Lys) of the LMNA gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism. © 2012 Wiley Periodicals, Inc.