Journal of the Formosan Medical Association
Volume 105, Issue 12 , Pages 1013-1016, 2006

Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal

  • Hui-Pin Hsiao

      Affiliations

    • Department of Pediatrics, Kaohsiung Municipal Hsiao Kang Hospital Kaohsiung Medical University, Kaohsiung, Taiwan
    • Department of Pediatrics Kaohsiung Medical University, Kaohsiung, Taiwan
    • ,
  • Li-Ping Tsai

      Affiliations

    • Department of Pediatrics, Buddhist Xindian Tzu Chi General Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    • ,
  • Mei-Chyn Chao

      Affiliations

    • Department of Pediatrics Kaohsiung Medical University, Kaohsiung, Taiwan
    • Cytogenetics Lab, Department of Clinical Laboratory, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Mei-Chyn Chao, Department of Pediatrics, Kaohsiung Medical University Hospital, 100 Tzyou 1st Road, Kaohsiung 807, Taiwan
    • ,
  • Hsin-I Tseng

      Affiliations

    • Department of Pediatrics Kaohsiung Medical University, Kaohsiung, Taiwan
    • ,
  • Yuli C. Chang

      Affiliations

    • Cytogenetics Lab, Department of Clinical Laboratory, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan

Received 17 August 2005; received in revised form 3 October 2005; accepted 6 December 2005.

Article Outline

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.

Key Words:  autosomal sex reversal , campomelic dysplasia , SOX9 gene

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References 

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PII: S0929-6646(09)60286-2

doi:10.1016/S0929-6646(09)60286-2

Journal of the Formosan Medical Association
Volume 105, Issue 12 , Pages 1013-1016, 2006

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