Split-Hand/foot Malformation With Long Bone Deficiency 2

For a general phenotypic description and discussion of genetic heterogeneity of split-hand/foot malformation with long bone deficiency, see SHFLD1 (119100).

Mapping

In a large consanguineous Arab family in the United Arab Emirates, in which split-hand/foot malformation with long bone deficiency (see SHFLD1, 119100) showed a segregation pattern consistent with autosomal dominant inheritance, Naveed et al. (2007) found evidence of linkage to 2 sites, 1q42.2-q43 (SHFLD1) and 6q14.1. Maximum multipoint lod scores of 3.20 and 3.78 were detected for the 2 locations on 1q and 6q, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of SHFLD2 to a region on 6q14.1 between single-nucleotide polymorphisms rs623155 and rs1547251.

Naveed et al. (2007) proposed that split-hand/foot malformation with long bone deficiency in this kindred fitted the model of digenic inheritance as proposed by Zlotogora (1994, 1995).