Publication:
The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients

Simple item page
dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsKirac, Deniz; Guney, Ahmet Ilter; Akcay, Teoman; Guran, Tulay; Ulucan, Korkut; Turan, Serap; Ergec, Deniz; Koc, Gulsah; Eren, Fatih; Kaspar, Elif Cigdem; Bereket, Abdullah
dc.date.accessioned2022-03-13T12:45:44Z
dc.date.available2022-03-13T12:45:44Z
dc.date.issued2014
dc.description.abstractCongenital adrenal hyperplasia (CAH) is a group of genetic endocrine disorders, caused by enzyme deficiencies in the conversion of cholesterol to cortisol. More than 90% of the cases have 21-hydroxylase deficiency (21-OHD). The clinical phenotype of the disease is classified as classic, the severe form, and nonclassic, the mild form. In this study, it was planned to characterize the mutations that cause 21-OHD in Turkish CAH patients by direct sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis and to investigate the type of CAH (classic or nonclassic type) that these mutations cause. A total of 124 CAH patients with 21-OHD and 100 healthy volunteers were recruited to the study. Most of the mutations were detected by direct sequencing. Large gene deletions/duplications/conversions were investigated with MLPA analysis. Results were evaluated statistically. At the end of our study, 66 different variations were detected including SNPs and deletions/duplications/conversions. Of these variations, 18 are novel, of which three cause amino acid substitutions. In addition, 15 SNPs which cause amino acid changes were identified among these variations. If similar results are obtained in different populations, these mutations, in particular the novel mutation 711 G>A, may be used as markers for prenatal diagnosis.
dc.identifier.doi10.1111/ahg.12083
dc.identifier.eissn1469-1809
dc.identifier.issn0003-4800
dc.identifier.pubmed25227725
dc.identifier.urihttps://hdl.handle.net/11424/237837
dc.identifier.wosWOS:000343758100002
dc.language.isoeng
dc.publisherWILEY
dc.relation.ispartofANNALS OF HUMAN GENETICS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCYP21A2
dc.subjectCAH
dc.subject21-OHD
dc.subjectdirect sequencing
dc.subjectMLPA analysis
dc.subjectPRENATAL-DIAGNOSIS
dc.subjectMOLECULAR DIAGNOSIS
dc.subjectCYP21A2 GENE
dc.subjectCLASSIC FORM
dc.subjectDEFICIENCY
dc.subjectMUTATIONS
dc.subjectIDENTIFICATION
dc.subjectREARRANGEMENTS
dc.subjectPHENOTYPE
dc.subjectGENOTYPE
dc.titleThe Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
dc.typearticle
dspace.entity.typePublication
local.avesis.id190952f8-2bdd-44f1-b98e-5038456c89ba
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages11
oaire.citation.endPage409
oaire.citation.issue6
oaire.citation.startPage399
oaire.citation.titleANNALS OF HUMAN GENETICS
oaire.citation.volume78
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscovery669e9474-4e39-453f-a4bc-4ede9cb5abac

Files

Collections

Research Outputs