Genotype-Phenotype Correlation in CAH Patients with Severe CYP21A2 Point Mutations in the Republic of Macedonia
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Violeta Anastasovska
ABSTRACT
Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity.
Methods: We have performed direct molecular diagnosis of the nine common CYP21A2 point mutations in 24 Macedonian CAH patients from 20 unrelated families, using differential PCR and ACRS.
Results: Five of the analysed mutations were detected in 23 patients: 15 patients were homozygous for one mutation, four patients were compound heterozygotes and four patients were heterozygotes. The most common was IVS2-13A/C mutation found in 60.4% of the alleles, followed by Q318X (22.9%), R356W (4.2%), V281L (2.1%) and P30L (2.1%). The concordance of genotype to phenotype in the patients was 83.3% with complete concordance in the genotypes predicting the SW and SV phenotype.
Conclusion: The distribution of the detected mutations in the Macedonian CAH patients was similar with those described in other European populations. The genotype-phenotype correlation observed in our patients strengthens the fact that the genotype cannot be completely predictive of phenotype.
© Freund Publishing House Ltd.
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- The Soy That Surrounds Us: An Endless Debate
- Soy as an Endocrine Disruptor: Cause for Caution?
- Mass Ascites in Mulibrey Nanism
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- Age and Sex Differences in Fat Distribution in Non-Obese Japanese Children
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- Serum Thyroid Hormone Levels in Preterm Infants Born before 33 Weeks of Gestation and Association of Transient Hypothyroxinemia with Postnatal Characteristics
- Birth Length is a Predictor of Adiponectin Levels in Japanese Young Children
- Genotype-Phenotype Correlation in CAH Patients with Severe CYP21A2 Point Mutations in the Republic of Macedonia
- Benign Transient Hyperphosphatasemia of Infancy. A Common Benign Scenario, a Big Concern for a Pediatrician
- Scarcity Despite Wealth: Osteopetrorickets
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