SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Nat Genet
; 19(1): 67-9, 1998 May.
Article
en En
| MEDLINE
| ID: mdl-9590292
ABSTRACT
Dyschondrosteosis (DCS) is an autosomal dominant 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 (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 (in seven families) and a nonsense mutation (in one family) of SHOX in patients with DCS and show that Langer mesomelic dwarfism results from homozygous mutations at the DCS locus.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Proteínas de Homeodominio
/
Mutación
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1998
Tipo del documento:
Article
País de afiliación:
Francia