Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study

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dc.contributor.authorBas, Firdevs
dc.contributor.authorUyguner, Z. Oya
dc.contributor.authorDarendeliler, Feyza
dc.contributor.authorAycan, Zehra
dc.contributor.authorCetinkaya, Ergun
dc.contributor.authorBerberoglu, Merih
dc.contributor.authorSiklar, Zeynep
dc.date.accessioned2024-02-23T13:59:44Z
dc.date.available2024-02-23T13:59:44Z
dc.date.issued2015
dc.departmentNEÜen_US
dc.description.abstractTo investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients with CPHD were included in this study. Based on clinical, hormonal, and neuro-radiological data, relevant transcription factor genes were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification. Total frequency of mutations was 30.9 % in patients with CPHD. Frequency was significantly higher in familial patients (p = 0.001). Three different types of mutations in PROP1 gene (complete gene deletion, c.301-302delAG, a novel mutation; IVS1+2T > G) were found in 12 unrelated patients (21.8 %). Mutations in PROP1 gene were markedly higher in familial than in sporadic cases (58.8 vs. 5.3 %, p < 0.001). Homozygous complete gene deletion was the most common mutation in PROP1 gene (8/12) and was identified in six familial patients. Four different homozygous mutations [p.Q4X, novel mutations; exons 1-2 deletion, p.V153F, p.I244S] were detected in POU1F1 gene. Central precocious puberty was firstly observed in a sporadic-male patient with homozygous POU1F1 (p.I244S) mutation. A homozygous mutation in HESX1 gene (p.R160H) was detected in one patient. This study is the first to investigate specific mutations in CPHD patients in Turkey. Complete deletion in PROP1 gene was the most common mutation encountered in patients with CPHD. We believe that the results of this study will contribute to the establishment of genetic screening strategies in Turkey, as well as to the studies on phenotype-genotype correlations and early diagnosis of CPHD patients.en_US
dc.description.sponsorshipScientific and Technological Research Institution of Turkey [106S277-SBAG-3488]; Scientific Research Projects Coordination Unit of Istanbul University [2871]en_US
dc.description.sponsorshipThis work was supported by Scientific and Technological Research Institution of Turkey (Project Number: 106S277-SBAG-3488) and Scientific Research Projects Coordination Unit of Istanbul University (Project Number: 2871). The authors would like to thank Professor Olcay Neyzi, MD, of the Istanbul Faculty of Medicine, Istanbul University, for helpful discussions and critical reading of the manuscript.en_US
dc.identifier.doi10.1007/s12020-014-0498-1
dc.identifier.endpage491en_US
dc.identifier.issn1355-008X
dc.identifier.issn1559-0100
dc.identifier.issue2en_US
dc.identifier.pmid25500790en_US
dc.identifier.scopus2-s2.0-84929953428en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage479en_US
dc.identifier.urihttps://doi.org/10.1007/s12020-014-0498-1
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11300
dc.identifier.volume49en_US
dc.identifier.wosWOS:000355230500022en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEndocrineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypopituitarismen_US
dc.subjectCombined Pituitary Hormone Deficiencyen_US
dc.subjectTranscription Factorsen_US
dc.subjectGene Mutationen_US
dc.subjectPrecocious Pubertyen_US
dc.titleMolecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter studyen_US
dc.typeArticleen_US

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