Absence of Lamin A/C Gene Mutations in Four Wiedemann-Rautenstrauch Syndrome Patients

被引：16

作者：

Morales, Luis C. ^{[2
]}

Arboleda, Gonzalo ^{[2
,3
,4
]}

Rodriguez, Yeldy ^{[2
]}

Forero, Diego A. ^{[2
]}

Ramirez, Nelson ^{[2
]}

Yunis, Juan J. ^{[2
,3
,4
]}

Arboleda, Humberto ^{[1
,2
,5
]}

机构：

[1] Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, Colombia

[2] Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia

[3] Univ Nacl Colombia, Dept Patol, Bogota, Colombia

[4] Univ Nacl Colombia, Grp Patol Mol, Bogota, Colombia

[5] Univ Nacl Colombia, Fac Med, Dept Pediat, Bogota, Colombia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 12期

关键词：

neonatal progeria; Wiedemann-Rautenstrauch syndrome; Lamin A/C; sequence; NEONATAL PROGEROID SYNDROME; BODY-FAT DISTRIBUTION; KUGELKERN; ZMPSTE24; LMNA;

D O I：

10.1002/ajmg.a.33090

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2009 Wiley-Liss, Inc.

引用

页码：2695 / 2699

页数：5

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