Premium
Somatic and gonadal mosaicism in Hutchinson–Gilford progeria
Author(s) -
Wuyts Wim,
Biervliet Martine,
Reyniers Edwin,
D'Apice Maria Rosaria,
Novelli Giuseppe,
Storm Katrien
Publication year - 2005
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.30663
Subject(s) - lmna , progeria , lamin , genetics , germline , somatic cell , biology , germline mosaicism , germline mutation , mutation , allele , gene
Abstract We have studied a patient with Hutchinson–Gilford progeria (HGP). Sequence analysis of the LMNA gene demonstrated the presence of a c.1824 C > T (p.G608G) mutation, activating a cryptic splice donor site and leading to the formation of a truncated Lamin A protein. All molecularly characterized autosomal dominant HGP cases described so far result from de novo LMNA mutations, mostly originating on the paternal allele and are often linked with advanced paternal age. However, in our patient, the mutation was transmitted by the mother who showed somatic and germline mosaicism without HGP manifestations. © 2005 Wiley‐Liss, Inc.