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Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews
Tamar Paperna1, Ruth Gershoni-Baruch, Kader Badarneh
1Genetics Institute and Division of Endocrinology, Meyer Children's Hospital, P.O.B. 9602, Haifa 31096, Israel.
Context:
In Jews of Moroccan descent (MJ), the prevalence of steroid 11beta-hydroxylase deficiency (11-OHD) is relatively high, with a carrier rate estimated as approximately one in 40. A single mutation in the CYP11B1 gene (encoding 11beta-hydroxylase), R448H, was suggested to account for the disease alleles in this population.
Study Subjects:
We screened 236 healthy MJ for R448H.
Results:
Only two of the subjects screened were found to be carriers, suggesting that the R448H allele frequency is lower than was assumed previously. An R448H/R448C compound heterozygote patient, diagnosed with 11-OHD, was identified. However, a subsequent screen of MJ subjects for R448C failed to detect any carriers, suggesting that this was a private mutation of this family.
Conclusion:
The high incidence of 11-OHD in MJ, therefore, is only partially explained by the presence of R448H as a founder mutation.
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