Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri‐Weill syndrome)

摘要: Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations the SHOX gene on pseudoautosomal region chromosome X Y [Belin et al., 1998: Nat Genet 19:67–69; Shears 19:70–73]. Here, we report molecular analysis a total 23 DCS families including 16 previously reported pedigrees Huber 2001: J Med 38:281–284] 7 novel families. Linkage analyses in 21 were consistent with linkage region. However, 2 families, studies excluded as disease-causing gene, suggesting this condition genetically heterogeneous. © 2002 Wiley-Liss, Inc.