Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation

被引：15

作者：

Debeer, P

Huysmans, C

Van De Ven, WJM

Fryns, JP

Devriendt, K

机构：

[1] Ctr Human Genet, B-3000 Louvain, Belgium

[2] Dept Orthoped, Pellenberg, Belgium

[3] Mol Oncol Lab, Louvain, Belgium

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 134A卷 / 03期

关键词：

BMP antagonist; mosaicism;

D O I：

10.1002/ajmg.a.30645

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the NOG gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism. or a low level of somatic mosaicism in one of the parents. (c) 2005 Wiley-Liss, Inc.

引用

页码：318 / 320

页数：3

共 5 条

[1] Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin [J].