期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 12, 页码 1600-1605出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.81
关键词
WNT10A; missense mutation; OODD syndrome; ectodermal dysplasia
资金
- The Swedish Research Council
- Swedish Links (Asia)
- The Indevelops fund
- Thureus fund
- Torsten and Ragnar Soderbergs Funds
- Uppsala University
- Uppsala University Hospital
Wnt signalling is one of a few pathways that are crucial for controlling genetic programs during embryonic development as well as in adult tissues. WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutation in WNT10A was recently identified in odonto-onycho-dermal dysplasia (OODD; MIM 257980), a rare syndrome characterised by severe hypodontia, nail dystrophy, smooth tongue, dry skin, keratoderma and hyperhydrosis of palms and soles. We identified a large consanguineous Pakistani pedigree comprising six individuals affected by a complete OODD syndrome. Autozygosity mapping using SNP array analysis showed that the affected individuals are homozygous for the WNT10A gene region. Subsequent mutation screening showed a homozygous c.392C4>T transition in exon 3 of WNT10A, which predicts a p.A131V substitution in a conserved alpha-helix domain. We report here on the first inherited missense mutation in WNT10A with associated ectodermal features. European Journal of Human Genetics (2009) 17, 1600-1605; doi:10.1038/ejhg.2009.81; published online 27 May 2009
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据