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dc.contributor.authorTüysüz, Beyhan
dc.contributor.authorToksoy, Güven
dc.contributor.authorDündar, Munis
dc.contributor.authorErcan, Oya
dc.contributor.authorUyguner, Zehra Oya
dc.contributor.authorAghayeva , Asmar
dc.contributor.authorTuran, Hande
dc.contributor.authorDagdeviren Cakir, Aydilek
dc.contributor.authorBerkay, Ezgi
dc.contributor.authorGüneş, Nilay
dc.contributor.authorEvliyaoğlu, Saadet Olcay
dc.date.accessioned2021-03-07T12:05:49Z
dc.date.available2021-03-07T12:05:49Z
dc.identifier.citationAghayeva A., Turan H., Toksoy G., Dagdeviren Cakir A., Berkay E., Gne N., Evliyaolu S. O. , Uyguner Z. O. , Dndar M., Tysz B., et al., "Clinical phenotype and genotype association in patients with 21-hydroxylase deficiency", 58th Annuel Meeting of the European Society for Paediatric Endocrinology /ESPE), Vienna, Avusturya, 19 - 21 Eyll 2019, cilt.1, sa.1, ss.361
dc.identifier.othervv_1032021
dc.identifier.otherav_3c9399fc-722e-4649-9d09-3b76fd374177
dc.identifier.urihttp://hdl.handle.net/20.500.12627/167517
dc.identifier.urihttps://doi.org/10.1159/000505087
dc.description.abstractIntroduction:Congenital adrenal hyperplasia (CAH) is an autosomalrecessively transmitted disease and 95% of CAH cases aredue to 21-hydroxylase deficiency (21-OHD). There are more than100 mutations that cause CAH due to 21-OHD and the clinical expressionof the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsiblemutations and then to evaluate genotype-phenotype relationshipin CAH patients with 21-OHD.Methods: Mutations were firstly investigated by sequenceanalysis by Sanger method; when needed Multiplex Ligation-dependentProbe Amplification (MLPA) technique was applied. Mutationswere grouped as of group 0, A, B or C and compared withthe expected clinical phenotype i.e. Group 0: Salt wasting (SW),Group A: SW, Group B: Simple virilizing (SV), Group C: Nonclassical(NC) and positive predictive value (ppv) was determined forthe different groups (1).Subjects:Genotype was investigated in 40 cases with 21-OHD(33 classical, 7 nonclassical).Results: Responsible mutations were determined in 37of the cases (n:15 SW, n:15 SV, n:7 NC). The rate of parentalconsanguinity was 43.2%. In 4 compound heterozygotes genotypeswere determined after the genotyping of parents. In 11 cases onlySanger method, in 26 cases Sanger and MLPA methods were used.Mutations were identified in 73 alleles from 37 cases (mutationonly in one allele in one case: Deletion/Not detected). The mostcommon mutation was IVS2-13A/C>G (28.3%), followed byp.I172N mutation (17.5%) and large gene deletions (14.7%). Inaddition, heterozygosity for p.Y59N mutation which has not beenpreviously reported in our region and a higher rate (10.8%) for thep.V281L mutation than that reported before was found.
dc.language.isoeng
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectPediatrik Endokrinoloji ve Metabolizma
dc.subjectTıbbi Genetik
dc.subjectTIP, GENEL & İÇECEK
dc.subjectPEDİATRİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectKlinik Tıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp (MED)
dc.titleClinical phenotype and genotype association in patients with 21-hydroxylase deficiency
dc.typeBildiri
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , ,
dc.identifier.volume1
dc.contributor.firstauthorID1041038


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