Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews
Abstract
Context: In Jews of Moroccan descent (MJ), the prevalence of steroid 11β-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 11β-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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21OH deficiency is characterized by impaired cortisol and aldosterone production and androgen excess.
“Over 95% of CAH is due to 21OH deficiency, 20 characterized by impaired cortisol and aldosterone production and androgen excess.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [20]
Mutations that completely inactivate CYP21A2 result in the SW phenotype, which, without neonatal screening, presents in the first 2 weeks of life with a life-threatening adrenal crisis.
“Mutations which completely inactivate CYP21A2 result in the SW phenotype, which, without neonatal screening, presents in the first 2 weeks of life with a life-threatening adrenal crisis (Table 2).20”
From Congenital adrenal hyperplasia (2017) · cites this paper as [20]
Over 95% of congenital adrenal hyperplasia (CAH) is due to 21-hydroxylase (21OH) deficiency.
“Over 95% of CAH is due to 21OH deficiency, 20 characterized by impaired cortisol and aldosterone production and androgen excess.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [20]
Neonatal screening for classic CAH due to 21OH deficiency is currently carried out worldwide in over 40 countries, including all 50 US states since 2009, though not yet implemented in the UK.
“Life-saving neonatal screening for classic CAH due to 21OH deficiency was first performed in Alaska in 1977 7 and is currently being carried out worldwide in over 40 countries, including all 50 US states since 2009, though not yet implemented in the UK.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [20]
Mineralocorticoid, in the form of fludrocortisone, is given to achieve a plasma renin activity in the normal range in the salt-wasting forms of CAH.
“Mineralocorticoid, in the form of fludrocortisone, is given to achieve a plasma renin activity in the normal range in the salt-wasting forms of CAH (Panel) 20 .”
From Congenital adrenal hyperplasia (2017) · cites this paper as [20]
A 17OHP level above 1,000 ng/dL (30 nmol/L) is diagnostic for 21OH deficiency, although a random level of 10,000 ng/dL (303 nmol/L) or greater is commonly observed in the classic form.
“A level above 1,000 ng/dL (30 nmol/L) is diagnostic for 21OH deficiency, although a random level of 10,000 ng/dL (303 nmol/L) or greater is commonly observed in the classic form (Table 2).20”
From Congenital adrenal hyperplasia (2017) · cites this paper as [20]
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- Authors
- Paperna, T., Gershoni-Baruch, R., Badarneh, K., Kasinetz, L., & Hochberg, Z.
- Affiliations
- Technion – Israel Institute of Technology (IL)
- Genetics Institute (T.P., R.G.-B., K.B., L.K.), Haifa 31096, Israel
- Corresponding author
- Hochberg, Ze’ev
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2005-09-01
- Volume
- 90
- Issue
- 9
- Pages
- 5463-5465
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1984119033
- Cited by
- 43
- References
- 23
- Citations by year
- 2025: 1 · 2023: 4 · 2022: 2 · 2021: 2 · 2019: 2 · 2018: 2 · 2017: 3 · 2016: 3 · 2015: 4 · 2014: 2 · 2012: 2
- FWCI
- 0.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- CYP11B1, congenital adrenal hyperplasia, founder mutation, carrier frequency, compound heterozygosity, Moroccan Jews, allele frequency
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adult, Arginine, Base Sequence, Codon, Female, Gene Frequency, Genetic Testing, Heterozygote, Histidine, Humans, Infant, Newborn, Jews, Morocco, Mutation, Pedigree, Steroid 11-beta-Hydroxylase
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