Campomelic syndrome and deletion of SOX9

Autor:	P N, Olney, L S, Kean, D, Graham, L J, Elsas, K M, May
Rok vydání:	1999
Předmět:	Bone Diseases Developmental High Mobility Group Proteins Infant Newborn Chromosome Breakage SOX9 Transcription Factor Fibroblasts Karyotyping Humans Female Chondrogenesis Gene Deletion In Situ Hybridization Fluorescence Chromosomes Human Pair 17 Transcription Factors
Zdroj:	American journal of medical genetics. 84(1)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::eaae24fe4eefe713446b4077dc71eb01 https://pubmed.ncbi.nlm.nih.gov/10213041 Zobrazit plný text záznamu Plný text