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Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients
Author(s) -
Morales Luis C.,
Arboleda Gonzalo,
Rodríguez Yeldy,
Forero Diego A.,
Ramírez Nelson,
Yunis Juan J.,
Arboleda Humberto
Publication year - 2009
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.33090
Subject(s) - lmna , progeria , lamin , genetics , mutation , gene , premature aging , transition (genetics) , biology , gene mutation
The Wiedemann–Rautenstrauch syndrome (WRS, OMIM: 264090) characterizes a premature aging syndrome in which several features of aging are apparent at birth. We did not find mutations in Lamin A/C ( LMNA ) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson–Gilford progeria (OMIM 176670). These findings suggest that WRS represents a distinct progeroid entity that may be caused by recessive mutations of a different gene. © 2009 Wiley‐Liss, Inc.