title: Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
abstract: Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cases have heterozygous de novo mutations in the coding region of the transcription factor gene SOX9 (SRY-related high-mobility group [HMG] box 9) in chromosome 17q. Here, we report a novel mutation of SOX9 in a female neonate with CD with autosomal sex reversal. Respiratory distress and cyanosis were noted at birth, and endotracheal intubation with mechanical ventilation was performed due to respiratory failure. The presenting phenotypes included dysmorphic face with macrocephaly, prominent forehead, low nasal bridge, cleft palate and micrognathia. Skeletal deformities characteristic of CD were observed, including narrow thoracic cage, hypoplastic scapulae, scoliosis and short limbs with anterolateral femoral and tibial bowing. The karyotype was 46,XY despite female external genitalia. SOX9 gene analysis revealed frameshift mutation (at nucleotide position 1095G-->AT) in the open reading frame, resulting in a frameshift with 211 new amino acids.
authors.affiliation: Department of Pediatrics, Kaohsiung Municipal Hsiao Kang Hospital, Kaohsiung, Taiwan.
authors.forename: Hui-Pin
authors.initials: HP
authors.lastname: Hsiao
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Tsai
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
authors.forename: Hsin-I
authors.initials: HI
authors.lastname: Tseng
authors.forename: Yuli C
authors.initials: YC
authors.lastname: Chang
mesh_terms: D012734:Disorders of Sex Development; D005260:Female; D016368:Frameshift Mutation; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; 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