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Mutations in CYP11B1 and Congenital Adrenal Hyperplasia in Moroccan Jews

Genetics Institute (T.P., R.G.-B., K.B., L.K.) and Division of Endocrinology, Meyer Children’s Hospital, Rambam Medical Center (Z.H.), Technion–Israel Institute of Technology (T.P., R.G.-B., Z.H.), Haifa 31096, Israel

Address all correspondence and requests for reprints to: Dr. Ze’ev Hochberg, Meyer Children’s Hospital, P.O.B. 9602, Haifa 31096, Israel. E-mail: z_hochberg{at}rambam.health.gov.il.

Context: In Jews of Moroccan descent (MJ), the prevalence of steroid 11ß-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 11ß-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.