Molecular defects of the CYP21A2 gene in greek-cypriot patients with congenital adrenal hyperplasia

Nicos Skordis, Andreas Kyriakou, Véronique Tardy, Yiannis S. Ioannou, Athanasia Varvaresou, Maria Dracopoulou-Vabouli, Philippos C. Patsalis, Christos Shammas, Vassos Neocleous, Leonidas A. Phylactou

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19 Citations (Scopus)

Abstract

Background/Aim: To determine the mutations in the CYP21A2 gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. Subjects and Methods: Molecular analysis was performed by multiplex ligation-dependent probe amplification and direct sequencing of PCR products of the CYP21A2 gene in 32 CAH patients. Results: The most frequent genetic defect in the classic salt-wasting and simple virilizing forms was the IVS2-13A/C>G (55%) mutation, followed by Large lesion (20%) and in the non-classical form, the p.V281L (79.5%). Genotypes were categorized in 4 mutation groups (null, A, B and C). All 3 patients in the null group manifested the salt-wasting form and all 6 patients in mutation group A presented with the classical form. One patient in group B had the simple virilizing form and 22 patients in group C exhibited the non-classical form. Conclusion: The spectrum of mutations of the CYP21A2 gene in our population is comparable to the most common reported in similar ethnic groups. The knowledge of the ethnic specificity of the CYP21A2 mutations represents a valuable diagnostic tool for all forms of CAH.

Original languageEnglish
Pages (from-to)180-186
Number of pages7
JournalHormone Research in Paediatrics
Volume75
Issue number3
DOIs
Publication statusPublished - Mar 2011

Keywords

  • Congenital adrenal hyperplasia
  • CYP21A2 gene
  • Mutations

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    Skordis, N., Kyriakou, A., Tardy, V., Ioannou, Y. S., Varvaresou, A., Dracopoulou-Vabouli, M., Patsalis, P. C., Shammas, C., Neocleous, V., & Phylactou, L. A. (2011). Molecular defects of the CYP21A2 gene in greek-cypriot patients with congenital adrenal hyperplasia. Hormone Research in Paediatrics, 75(3), 180-186. https://doi.org/10.1159/000320040