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CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation

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Published/Copyright: October 31, 2008
Clinical Chemistry and Laboratory Medicine
From the journal Clinical Chemistry and Laboratory Medicine Volume 46 Issue 12

Abstract

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease most often due to steroid 21-hydroxylase deficiency (21OHD). The incidence of the CYP21A2 gene mutations in 21OHD has been extensively studied in recent years. The p.Q318X mutation presents an ethnic-specific distribution with a higher prevalence (40%) in Tunisia.

Methods: A total of 20 Moroccan patients were studied, using PCR amplification and sequencing, to determine the mutation spectrum and to evaluate whether the incidence of the p.Q318X mutation is similar in Morocco and in Tunisia.

Results: Results revealed that 15 patients were with the salt wasting (SW) form and five with the simple virilizing (SV) form of the disease. All patients were homozygous or compound heterozygous for severe mutations of the CYP21A2 gene. The IVS2-13A/C>G was the most common mutation (47% of chromosomes) and the p.I172N (11%) was associated with the SV form. The p.Q318X was the second most frequent mutation (19.4%) with a regional distribution: the mutation was especially detected (75%) in patients from the midland of Morocco (Fez). We found a novel p.L353R mutation associated with the p.V281L mutation on the same chromosome in one patient at homozygous state.

Conclusions: Genotyping for the four common mutations (IVS2-13A/C>G, p.Q318X, large lesions of the CYP21A2 gene and p.I172N) should allow identifying the diseased alleles and providing genetic counseling in 94% of CAH Moroccan cases. The regional distribution of mutations should help in screening studies.

Clin Chem Lab Med 2008;46:1707–13.

Keywords: congenital adrenal hyperplasia (CAH) salt wasting (SW) and simple virilizing (SV) forms; CYP21A2; Moroccan; p.Q318X; p.L353R
a

Fatima Abid and Véronique Tardy contributed equally to this work and should be considered as equal first authors.

Corresponding author: Layachi Chabraoui, Faculty of Medicine and Pharmacy of Rabat, Avenue Mohammed Belarabi Elalaoui 6203, Rabat, Morocco Phone: +212-37-673305, Fax: +212-37-670224,
Received: 2008-6-2
Accepted: 2008-8-12
Published Online: 2008-10-31
Published in Print: 2008-12-01

©2008 by Walter de Gruyter Berlin New York

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https://doi.org/10.1515/CCLM.2008.339
Keywords for this article
congenital adrenal hyperplasia (CAH) salt wasting (SW) and simple virilizing (SV) forms; CYP21A2; Moroccan; p.Q318X; p.L353R

Articles in the same Issue

  1. Editors' and Publisher's Note
  2. CCLM Award for the most cited paper recently published
  3. Reviews
  4. Cystatin C: current position and future prospects
  5. Some heterogeneity factors affecting the B-type natriuretic peptides outcome: a meta-analysis
  6. Genetics and Molecular Diagnostics
  7. Effect of cyclin D1 (CCND1) polymorphism on gastric premalignant condition
  8. Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy
  9. CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation
  10. Apolipoprotein A5 gene −1131T/C polymorphism is associated with the risk of metabolic syndrome in ethnic Chinese in Taiwan
  11. Association of GSTM1 and GSTT1 gene polymorphisms with coronary artery disease in relation to tobacco smoking
  12. Use of the biochip microarray system in detection of myocardial injury caused by radiofrequency catheter ablation
  13. An in-house method for the detection and quantification of HCV in serum samples using a TaqMan assay real time PCR approach
  14. General Clinical Chemistry and Laboratory Medicine
  15. Drugs and brain death diagnostics: determination of drugs capable of inducing EEG zero line
  16. Accurate assessment and identification of naturally occurring cellular cobalamins
  17. Development and validation of a high-performance liquid chromatography assay for posaconazole utilizing solid-phase extraction
  18. Discriminant value of % microcytic/% hypochromic ratio in the differential diagnosis of microcytic anemia
  19. Determination of carbohydrate-deficient transferrin (CDT) in Italy
  20. Validation and Outcome Studies
  21. Critical evaluation of connectivity-based point of care testing systems of glucose in a hospital environment
  22. Validation of a novel ELISA for measurement of electronegative low-density lipoprotein
  23. Five commercially available insulin-like growth factor I (IGF-I) assays in comparison to the former Nichols Advantage IGF-I in a growth hormone treated population
  24. Introduction of non-linearity by data transformation in method comparison and commutability studies
  25. Reliability and correlation study of a new homocysteine assay
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  28. Does carbamylated hemoglobin still affect the analysis of HbA1c in uremic and hyperglycemic patients?
  29. Recombinant immunoblot for assessment of intrathecally synthesised paraneoplastic antineuronal antibodies in cerebrospinal fluid from patients with paraneoplastic neurological syndromes
  30. Detection of duplicates and redundancies. A major responsibility of peer-reviewers?
  31. Erratum
  32. Diagnostic performance of rapid tests for detection of fecal calprotectin and lactoferrin and their ability to discriminate inflammatory from irritable bowel syndrome
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  35. Contents
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  37. Author Index
  38. Author Index
  39. Subject Index
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