title: Campomelic syndrome and deletion of SOX9.
abstract: The human SOX9 gene, located in chromosome region 17q24.1-25.1, encodes a transcription factor involved in chondrogenesis and testis development. Mutations in this gene cause campomelic syndrome (CMPS) with autosomal sex reversal. Here we describe an infant girl with CMPS and an interstitial deletion on the long arm of chromosome 17 (46,X,del(17)(q23.3q24.3). The extent of SOX9 deletion on one chromosome 17 was defined using unique sequence fluorescent in situ hybridization probes. This is the first report of a patient with CMPS bearing a complete deletion of one SOX9 gene, and as such is the strongest evidence to date for dose-dependent action of the SOX9 protein in normal chondrogenesis.
authors.affiliation: Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
authors.forename: P N
authors.initials: PN
authors.lastname: Olney
authors.forename: L S
authors.initials: LS
authors.lastname: Kean
authors.forename: D
authors.initials: D
authors.lastname: Graham
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
authors.forename: K M
authors.initials: KM
authors.lastname: May
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D020219:Chondrogenesis / Q000235:genetics*; D019457:Chromosome Breakage; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D017353:Gene Deletion; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors