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

dc.contributor.author	Σκορδής, Νίκος	el
dc.contributor.author	Κυριακού, Ανδρέας	el
dc.contributor.author	Tardy, Veronique	en
dc.contributor.author	Ιωάννου, Γιάννης	el
dc.contributor.author	Βαρβαρέσου, Αθανασία	el
dc.date.accessioned	2015-04-28T17:40:22Z
dc.date.issued	2015-04-28
dc.identifier.uri	http://hdl.handle.net/11400/9202
dc.rights	Αναφορά Δημιουργού-Μη Εμπορική Χρήση-Όχι Παράγωγα Έργα 3.0 Ηνωμένες Πολιτείες	*
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/3.0/us/	*
dc.source	http://www.karger.com	en
dc.subject	Μοριακή ανάλυση
dc.subject	Υπερπλασία των επινεφριδίων
dc.subject	Molecular analysis
dc.subject	Genes
dc.subject	Γονίδια
dc.title	Molecular defects of the CYP21A2 gene in greek-cypriot patients with congenital adrenal hyperplasia	en
heal.type	journalArticle
heal.classification	Genetics
heal.classification	Molecular biology
heal.classification	Γενετική
heal.classification	Μοριακή βιολογία
heal.classificationURI	http://id.loc.gov/authorities/subjects/sh85053877
heal.classificationURI	http://id.loc.gov/authorities/subjects/sh85086577
heal.classificationURI	N/A-Γενετική
heal.classificationURI	N/A-Μοριακή βιολογία
heal.dateAvailable	10000-01-01
heal.language	en
heal.access	forever
heal.publicationDate	2011
heal.bibliographicCitation	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	en
heal.abstract	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.	en
heal.tableOfContents	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.	en
heal.publisher	Karger	en
heal.journalName	Hormone Research in Paediatrics	en
heal.journalType	peer-reviewed
heal.fullTextAvailability	false