title: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
abstract: The phenotypic similarities have been demonstrated between non-lethal campomelic dysplasia (CD) and small patella syndrome (SPS), in which different genetic defects have been identified. We report on a familial case of skeletal dysplasia with overlapping phenotype of mild CD and SPS, including defective ischio-pubic ossification, elongated femoral neck, hypoplastic patellae, and increased space between the first and the second toes (sandal gap). Direct sequencing analysis demonstrated a novel missense mutation (p.H169Q) within the coding region of the SOX9 gene and negative for TBX4 mutations. Functional analysis of the p.H169Q mutant revealed reduced but not fully abolished transactivation capacity of the mutated protein. Retained residual SOX9 function might contribute to an extremely mild CD phenotype in the present cases. © 2013 Wiley Periodicals, Inc.
authors.affiliation: Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Matsushita
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kitoh
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kaneko
authors.forename: Kenichi
authors.initials: K
authors.lastname: Mishima
authors.forename: Izumi
authors.initials: I
authors.lastname: Kadono
authors.forename: Naoki
authors.initials: N
authors.lastname: Ishiguro
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D019556:COS Cells; D055036:Campomelic Dysplasia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002522:Chlorocebus aethiops; D019295:Computational Biology; D017124:Conserved Sequence; D014644:Genetic Variation; D006615:Hip / Q000002:abnormalities*; D006801:Humans; D007512:Ischium / Q000002:abnormalities*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010329:Patella / Q000002:abnormalities*; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics*; D055758:SOX9 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D016415:Sequence Alignment; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics
chemical_list: D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D020825:T-Box Domain Proteins; C491193:TBX4 protein, human
keywords: SOX9; campomelic dysplasia; familial; small patella syndrome