Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

摘要: Over the last two decades, we have extensively studied genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed 8,290 DNA analyses CYP21A2 gene on members 4,857 families at risk for CAH—the largest cohort CAH patients reported to date. Of studied, 1,507 had least one member affected with three known forms CAH, namely salt wasting, simple virilizing, or nonclassical CAH. Here, report genotype phenotype each patient, as well ethnic group country origin patient. We showed that 21 45 genotypes yielded a phenotypic correlation in our patient cohort. In particular, contrary what is generally literature, found certain mutations, example, P30L, I2G, I172N different phenotypes. wasting can be attributed genotype; however, virilizing observe wide variability, particularly exon 4 mutation. Finally, there was high frequency homozygous I2G V281L mutations Middle Eastern Ashkenazi Jewish populations, respectively. By identifying predominant given genotype, these findings should assist physicians prenatal diagnosis genetic counseling parents who are having child