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Am J Med Genet A. 2009 Dec;149A(12):2695-9. doi: 10.1002/ajmg.a.33090.

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

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  • 1Grupo de Neurociencias and Programa de Maestría en Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia.

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.

PMID:
19938095
DOI:
10.1002/ajmg.a.33090
[PubMed - indexed for MEDLINE]
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