Τίτλος:
Molecular Defects of the CYP27A2 Gene in Greek-Cypriot Patients with
Congenital Adrenal Hyperplasia
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.V281 L (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. Copyright
(C) 2010 S. Karger AG, Basel
Συγγραφείς:
Skordis, Nicos
Kyriakou, Andreas
Tardy, Veronique
Ioannou,
Yiannis S.
Varvaresou, Athanasia
Dracopoulou-Vabouli, Maria and
Patsalis, Philippos C.
Shammas, Christos
Neocleous, Vassos and
Phylactou, Leonidas A.
Περιοδικό:
Hormone Research in Paediatrics
Λέξεις-κλειδιά:
Congenital adrenal hyperplasia; CYP21A2 gene; Mutations
