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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms
Gene, Volume 507, No. 1, Year 2012
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Description
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. © 2012 Elsevier B.V.
Authors & Co-Authors
Ben Charfeddine, Ilhem
Tunisia, Sousse
Hopital Farhat Hached Sousse
Riepe, Felix Günther
Germany, Kiel
Christian-albrechts-universität zu Kiel
Clauser, Eric
France, Paris
Hopital Cochin Ap-hp
Ayedi, Abdelkarim
Tunisia, Mahdia
Hôpital Tahar Sfar
Makni, Saloua Krichen
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Sfar, Mohammed Tahar
Tunisia, Mahdia
Hôpital Tahar Sfar
Sboui, Hassen
Tunisia, Sousse
Hopital Farhat Hached Sousse
Kahloul, Najoua
Tunisia, Kairouan
Centre Hospitalo-universitaire Ibn el Jazzar de Kairouan
Ben Hamouda, Héchmi
Tunisia, Mahdia
Hôpital Tahar Sfar
Chouchane, Slaheddine
Tunisia, Monastir
Chu Fattouma-bourguiba
Trimech, Sihem
Tunisia, Sousse
Hopital Farhat Hached Sousse
Zouari, Noura
Tunisia, Sousse
Chu Sahloul
M'Rabet, Samir
Tunisia
Regional Hospital of Gabes
Amri, Fethi
Tunisia, Kairouan
Centre Hospitalo-universitaire Ibn el Jazzar de Kairouan
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Holterhus, Paul Martin
Germany, Kiel
Christian-albrechts-universität zu Kiel
Gribaa, Moez
Tunisia, Sousse
Hopital Farhat Hached Sousse
Statistics
Citations: 17
Authors: 17
Affiliations: 9
Identifiers
Doi:
10.1016/j.gene.2012.07.027
ISSN:
03781119
e-ISSN:
18790038
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Cross Sectional Study
Study Locations
Tunisia