EVIDENCE TO EXCLUDE SOX9 AS A CANDIDATE GENE FOR XY SEX REVERSAL WITHOUT SKELETAL MALFORMATION

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caus ed by mutations within the SOX9 gene or chromosomal rearrangement brea kpoints outside SOX9. Approximately three quarters of cases of CMD1 in XY subjects show complete or partial sex reversal. As some mutations cause CMD1 alone and others cause CMD1 and sex reversal, it is conceiv able that some mutations might cause sex reversal in the absence of CM D1. In this study, we have investigated this possibility by screening the entire coding region of SOX9 in 30 patients with a spectrum of XY sex reversal phenotypes. No mutations were identified, suggesting that SOX9 should not be considered a candidate gene for XY sex reversal wi thout skeletal malformation.