Campomelic syndrome and deletion of SOX9

The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a t ranscription factor involved in chondrogenesis and testis development. Muta tions in this gene cause campomelic syndrome (CMPS) with autosomal sex reve rsal. Here we describe an infant girl with CMPS and an interstitial deletio n on the long arm of chromosome 17 (46,XX,del(17) (q23.3q24.3). The extent of SOX9 deletion on one chromosome 17 was defined using unique sequence flu orescent in situ hybridization probes. This is the first report of a patien t with CMPS bearing a complete deletion of one SOX9 gene, and as such is th e strongest evidence to date for dose-dependent action of the SOX9 protein in normal chondrogenesis. (C) 1999 Wiley-Liss, Inc.