Supplementary Material for: Mutations of the SRY-Responsive Enhancer of <i>SOX9</i> Are Uncommon in XY Gonadal Dysgenesis Georg I. Bagheri-Fam S. Knower K.C. Wieacker P. Scherer G. Harley V.R. 10.6084/m9.figshare.5121394.v1 https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Mutations_of_the_SRY-Responsive_Enhancer_of_i_SOX9_i_Are_Uncommon_in_XY_Gonadal_Dysgenesis/5121394 During mouse sex determination, SRY upregulates the core testis-specific enhancer of <i>Sox9</i>, TESCO. Mutations in human <i>SRY</i> are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained. Heterozygous <i>SOX9</i> 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 <i>SRY</i> 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. 2010-09-14 00:00:00 Sex reversal SOX9 SRY Swyer syndrome Testis-specific enhancer TES TESCO XY gonadal dysgenesis