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 ,Revised 3 October 2005 ,Accepted 6 December 2005.

References 

  1. Houston CS , Opitz JM , Spranger JW , et al.   The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971 . Am J Med Genet . 1983;15:3–28
  2. Mansour S , Hall CM , Pembrey ME , et al.   A clinical and genetic study of campomelic dysplasia . J Med Genet . 1995;32:415–420
  3. Foster JW , Dominguez-Steglich MA , Guioli S , et al.   Cam-pomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene . Nature . 1994;372:525–530
  4. McDowall S , Argentaro A , Ranganathan S , et al.   Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia . J Biol Chem . 1999;274:24023–24030
  5. Morais da Silva S , Hacker A , Harley V , et al.   Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds . Nat Genet . 1996;14:62–68
  6. Akiyama H , Chaboissier MC , Martin JF , et al.   The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6 . Genes Dev . 2002;16:2813–2828
  7. Bricarelli FD , Fraccaro M , Lindsten J , et al.   Sex-reversed XY females with campomelic dysplasia are H-Y negative . Hum Genet . 1981;57:15–22
  8. Offiah AC , Mansour S , McDowall S , et al.   Surviving cam-pomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome . J Med Genet . 2002;39:50–54
  9. Wagner T , Wirth J , Meyer J , et al.   Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 . Cell . 1994;79:1111–1120
  10. Hill-Harfe KL , Kaplan L , Stalker HJ , et al.   Fine mapping of chromosome 17 translocation breakpoints > or =900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia . Am J Hum Genet . 2005;76:663–671
  11. Jakubiczka S , Bettecken T , Koch G , et al.   Campomelic dys-plasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene . Clin Dysmorphol . 2001;10:197–201
  12. Goji K , Nishijima E , Tsugawa C , et al.   Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization . Hum Mutat . 1998;(Suppl 1):114–116
  13. Knower KC , Kelly S , Harley VR . Turning on the male – SRY, SOX9 and sex determination in mammals . Cytogenet Genome Res . 2003;101:185–198
  14. Koopman P , Gubbay J , Vivian N , et al.   Male development of chromosomally female mice transgenic for Sry . Nature . 1991;351:117–121
  15. Cameron FJ , Sinclair AH . Mutations in SRY and SOX9: testis-determining genes . Hum Mutat . 1997;9:388–395
  16. Bernard P , Tang P , Liu S , et al.   Dimerization of SOX9 is required for chondrogenesis, but not for sex determination . Hum Mol Genet . 2003;12:1755–1765

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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