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

Morales Luis C. | Zendy; Arboleda Gonzalo | Zendy; Rodríguez Yeldy | Zendy; Forero Diego A. | Zendy; Ramírez Nelson | Zendy; Yunis Juan J. | Zendy; Arboleda Humberto | Zendy

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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.

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