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Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients

2009; Wiley; Volume: 149A; Issue: 12 Linguagem: Inglês

10.1002/ajmg.a.33090

1552-4833

Luis Carlos Morales, Gonzálo Arboleda, Yeldy Rodríguez, Diego A. Forero, Nelson Ramírez, Juan J. Yunis, Humberto Arboleda,

Genomics and Chromatin Dynamics

Abstract 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.