Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. In this study, the CYP21A2 gene was genotyped in 50 patients in Tunisia with the clinical diagnosis of 21-hydroxylase deficiency. CYP21A2 mutations were identified in 87% of the alleles. The most common point mutation in our population was the pseudogene specific variant p.Q318X (26%). Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population. The overall concordance between genotype and phenotype was 98%. With this study the molecular basis of CAH has been characterized, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling.
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A few studies have reported normal or even high BMD, but most have shown low BMD at all or at least some sites in patients with CAH.
“A few studies have reported normal (704-709) or even high BMD (710), but most have shown low BMD at all or at least some sites (209,217,360,646,711-722).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [209]
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
- Authors
- Ben Charfeddine, I., Riepe, F. G., Clauser, E., Ayedi, A., Makni, S., Sfar, M. T., Sboui, H., Kahloul, N., Ben Hamouda, H., Chouchane, S., Trimech, S., Zouari, N., M'Rabet, S., Amri, F., Saad, A., Holterhus, P.-M., & Gribaa, M.
- Affiliations
- Christian-Albrechts-Universität zu Kiel (DE)
- Children's Hospital (TN)
- Hôpital Farhat Hached (TN)
- University of Kairouan (TN)
- Hospital Fatuma Bourguiba Monastir (TN)
- Hôpital Sahloul (TN)
- University of Gabès (TN)
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2012-10
- Volume
- 507
- Issue
- 1
- Pages
- 20-26
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W2031778716
- Cited by
- 19
- References
- 7
- Citations by year
- 2026: 1 · 2022: 2 · 2021: 10 · 2019: 1 · 2017: 1 · 2016: 1 · 2015: 2 · 2014: 1
- FWCI
- 0.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gene (publishedVersion)
- PubMed (publishedVersion)
- Funders
- European Society of Endocrinology
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2, intergenic recombination, mutation spectrum, genotype-phenotype concordance, Tunisian population, genetic counseling
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Alleles, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Pseudogenes, Steroid 21-Hydroxylase, Tunisia, Point Mutation, Polymorphism, Single Nucleotide, Genetic Association Studies
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