title: Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
abstract: Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi-lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal. We report on two children with CD and a phenotypically normal father, a carrier of a somatic mosaic SOX9 deletion. This is the first report of a mosaic deletion of SOX9; few familial CD cases with germline and somatic mutation mosaicism have been described. Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Smyk
authors.forename: E
authors.initials: E
authors.lastname: Obersztyn
authors.forename: B
authors.initials: B
authors.lastname: Nowakowska
authors.forename: E
authors.initials: E
authors.lastname: Bocian
authors.forename: S W
authors.initials: SW
authors.lastname: Cheung
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
authors.forename: P
authors.initials: P
authors.lastname: Stankiewicz
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities*; D002886:Chromosomes, Human, Pair 17; D005192:Family Health; D005220:Fathers; D005260:Female; D017353:Gene Deletion; D006609:High Mobility Group Proteins / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D009154:Mutation; D009693:Nucleic Acid Hybridization; D019683:Penetrance; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics*
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors