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Title: Molecular defects of the CYP21A2 gene in greek-cypriot patients with congenital adrenal hyperplasia
Authors: Σκορδής, Νίκος
Κυριακού, Ανδρέας
Ιωάννου, Γιάννης
Βαρβαρέσου, Αθανασία
Tardy, Veronique
Item type: Journal article
Keywords: Μοριακή ανάλυση;Υπερπλασία των επινεφριδίων;Molecular analysis;Genes;Γονίδια
Subjects: Genetics
Molecular biology
Μοριακή βιολογία
Issue Date: 28-Apr-2015
Language: English
Citation: Skordis, N., Kyriakou, A., Tardy, V., Ioannou, Y.S., Varvaresou, A. et al. (2011) Molecular defects of the CYP21A2 gene in greek-cypriot patients with congenital adrenal hyperplasia. "Hormone Research in Paediatrics", 75 (3), p.180-186
Journal: Hormone Research in Paediatrics
Type of Journal: With a review process (peer review)
Table of contents: To determine the mutations in the CYP21A2 gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. Molecular analysis was performed by multiplex ligation-dependent probe amplification and direct sequencing of PCR products of the CYP21A2 gene in 32 CAH patients. 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. 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.
Access scheme: Embargo
License: Αναφορά Δημιουργού-Μη Εμπορική Χρήση-Όχι Παράγωγα Έργα 3.0 Ηνωμένες Πολιτείες
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