In:
Acta Paediatrica, Wiley, Vol. 88, No. s433 ( 1999-12), p. 55-59
Abstract:
Dyschondrosteosis is an autosomal dominant form of mesomelic dysplasia that is often combined with a deformity of the forearms called Madelung deformity. Based on the observation of X‐Y translocations (p22, q12) in patients with dyschondrosteosis, the authors tested the pseudoautosomal region in eight affected families and showed linkage of the dyschondrosteosis gene to a microsatellite DNA marker at the DXYS233 locus ( Z max =6.26 at θ=0). Since the short stature homeobox‐containing gene ( SHOX ) involved in idiopathic growth retardation and possibly Turner syndrome maps to this region, SHOX was regarded as a strong candidate gene for dyschondrosteosis. This article reports the detection of large‐scale SHOX deletions in seven of the eight families and a nonsense mutation of SHOX in the remaining family affected with dyschondrosteosis. Additional evidence suggests that Langer mesomelic dwarfism results from homozygous mutations at the genetic locus responsible for dyschondrosteosis.
Type of Medium:
Online Resource
ISSN:
0803-5253
,
1651-2227
DOI:
10.1111/apa.1999.88.issue-s433
DOI:
10.1111/j.1651-2227.1999.tb14404.x
Language:
English
Publisher:
Wiley
Publication Date:
1999
detail.hit.zdb_id:
1492629-5
detail.hit.zdb_id:
1501466-6
