TY - JOUR
T1 - Molecular defects of the CYP21A2 gene in greek-cypriot patients with congenital adrenal hyperplasia
AU - Skordis, Nicos
AU - Kyriakou, Andreas
AU - Tardy, Véronique
AU - Ioannou, Yiannis S.
AU - Varvaresou, Athanasia
AU - Dracopoulou-Vabouli, Maria
AU - Patsalis, Philippos C.
AU - Shammas, Christos
AU - Neocleous, Vassos
AU - Phylactou, Leonidas A.
PY - 2011/3
Y1 - 2011/3
N2 - 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.
AB - 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.
KW - Congenital adrenal hyperplasia
KW - CYP21A2 gene
KW - Mutations
UR - http://www.scopus.com/inward/record.url?scp=79952573240&partnerID=8YFLogxK
U2 - 10.1159/000320040
DO - 10.1159/000320040
M3 - Article
C2 - 20838032
AN - SCOPUS:79952573240
SN - 1663-2818
VL - 75
SP - 180
EP - 186
JO - Hormone Research in Paediatrics
JF - Hormone Research in Paediatrics
IS - 3
ER -