Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.

@article{CostaSantos2004TwoPC,
  title={Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.},
  author={Mariv{\^a}nia Costa-Santos and Cl{\'a}udio Elias Kater and Richard J Auchus},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2004},
  volume={89 1},
  pages={49-60}
}
We performed molecular genetic analysis of 24 subjects from 19 families with 17-hydroxylase deficiency in Brazil. Of 7 novel CYP17 mutations, 2 (W406R and R362C) account for 50% and 32% of the mutant alleles, respectively. Both mutations were completely inactive when studied in COS-7 cells and yeast microsomes; however, phenotypic features varied among subjects. Some 46,XY individuals with these genotypes had ambiguous genitalia, and other subjects had normal blood pressure and/or serum… CONTINUE READING
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