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This version published online on July 19, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2005-1145
A more recent version of this article appeared on September 1, 2005
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Submitted on May 20, 2005
Accepted on June 20, 2005

Mutations in CYP11B1 and Congenital Adrenal Hyperplasia in Moroccan Jews

Tamar Paperna, Ruth Gershoni-Baruch, Kader Badarneh, Leah Kasinetz, and Ze'ev Hochberg*

Genetics Institute and Division of Endocrinology, Meyer Children’s Hospital, Rambam Medical Center, Technion - Israel Institute of Technology, Haifa 31096, Israel

* To whom correspondence should be addressed. E-mail: z_hochberg{at}rambam.health.gov.il.

Context: In Jews of Moroccan descent, the prevalence of steroid 11ß-hydroxylase deficiency (11-OHD) is relatively high, with a carrier rate estimated as ~1:40. A single mutation in the CYP11B1 gene (encoding 11ß-hydroxylase), R448H, was suggested to account for the disease alleles in this population.

Design: We screened 236 healthy Moroccan Jews for R448H.

Results: Only 2 were found to be carriers, suggesting 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 this was a private mutation of this family.

Conclusion: The high incidence of 11-OHD in MJ is therefore only partially explained by the presence of R448H as a founder mutation.






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