Novel mutations in CYP21 detected in individuals with hyperandrogenism.

  title={Novel mutations in CYP21 detected in individuals with hyperandrogenism.},
  author={Svetlana Lajic and S{\'e}verine Clauin and Tiina Robins and Patrick Vexiau and H{\'e}l{\`e}ne Blanch{\'e} and Christine Bellann{\'e}-Chantelot and Anna Wedell},
  journal={The Journal of clinical endocrinology and metabolism},
  volume={87 6},
We studied the functional and structural consequences of two novel missense mutations in CYP21 found in women with hyperandrogenism. The women were predicted to carry mutations by hormonal evaluation, but did not display any of the genotypes commonly associated with congenital adrenal hyperplasia. In one woman the novel mutation V304M was found in homozygous form. After expression in COS-1 cells the mutated enzyme was found to have a residual activity of 46% for conversion of 17… CONTINUE READING
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