LIT1 and H19 methylation defects in isolated hemihyperplasia

被引：30

作者：

Martin, RA ^{[1
]}

Grange, DK ^{[1
]}

Zehnbauer, B ^{[1
]}

DeBaun, MR ^{[1
]}

机构：

[1] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 134A卷 / 02期

关键词：

hemihyperplasia; Beckwith-Wiedemann syndrome; BWS; methylation; LIT1; H19; imprinting;

D O I：

10.1002/ajmg.a.30578

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We performed LIT1 and H19 methylation studies on 27 children with isolated hemihyperplasia (IH). Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome. (c) 2005 Wiley-Liss, Inc.

引用

页码：129 / 131

页数：3

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