Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
The high incidence of 11-OHD in MJ, therefore, is only partially explained by the presence of R448H as a founder mutation.
Paperna
Tamar
T
Genetics Institute and Division of Endocrinology, Meyer Children's Hospital, P.O.B. 9602, Haifa 31096, Israel.
Gershoni-Baruch
Ruth
R
Badarneh
Kader
K
Kasinetz
Leah
L
Hochberg
Ze'ev
Z
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D001120:Arginine; D001483:Base Sequence; D003062:Codon; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006579:Heterozygote; D006639:Histidine; D006801:Humans; D007231:Infant, Newborn; D007585:Jews / Q000235:genetics*; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D010375:Pedigree; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
D003062:Codon; D006639:Histidine; D001120:Arginine; D013252:Steroid 11-beta-Hydroxylase