SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

被引：264

作者：

Belin, V

Cusin, V

Viot, G

Girlich, D

Toutain, A

Moncla, A

Vekemans, M

Le Merrer, M

Munnich, A ^{[1
]}

Cormier-Daire, V

机构：

[1] Hop Enfants Malad, INSERM U393, Dept Genet, Paris, France

[2] Hop Enfants Malad, INSERM U393, Unite Rech Handicaps Genet Enfant, Paris, France

[3] Hop Clocheville, Serv Genet, Tours, France

[4] Hop Enfants La Timone, Dept Genet, Marseille, France

来源：

NATURE GENETICS | 1998年 / 19卷 / 01期

关键词：

D O I：

10.1038/ng0198-67

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dyschondrosteosis(1) (DCS) is an autosomal dominant(2) form of mesomelic dysplasia with deformity of the forearm (Madelung deformity; ref. 3). Based on the observation of XY translocations (p22,q12; refs 4-6) in DCS patients, we tested the pseudoautosomal region in eight families with DCS and showed linkage of the DCS gene to a microsatellite DNA marker at the DXYS233 locus (Zmax=6.26 at theta=0). The short stature homeobox-containing gene(7,8) (SHOX), involved in idiopathic growth retardation and possibly Turner short stature, maps to this region and was therefore regarded as a strong candidate gene in DCS. Here, we report large-scale deletions tin seven families) and a nonsense mutation tin one family) of SHOX in patients with DCS and show that Langer mesomelic dwarfism(9) results from homozygous mutations at the DCS locus.

引用

页码：67 / 69

页数：3

共 14 条

[1] CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME [J].