Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis

I. Georg, S. Bagheri-Fam, K. C. Knower, P. Wieacker, Gerd Scherer, V. R. Harley

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During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous SOX9 mutations can cause XY GD in association with the skeletal malformation syndrome campomelic dysplasia. We hypothesized that human TESCO mutations could cause isolated XY GD. Sixty-six XY GD cases with an intact SRY were analyzed for TESCO point mutations or deletions. No mutations were identified. We conclude that TESCO mutations are not a common cause of XY GD.

Original languageEnglish
Pages (from-to)321-325
Number of pages5
JournalSexual Development
Issue number6
Publication statusPublished - Nov 2010
Externally publishedYes


  • Sex reversal
  • SOX9
  • SRY
  • Swyer syndrome
  • TES
  • Testis-specific enhancer
  • XY gonadal dysgenesis

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