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dc.contributor.authorCangül, Hakan
dc.contributor.authorDoğan, Murat
dc.contributor.authorÜstek, Duran
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:57:44Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T19:57:44Z
dc.date.issued2015en_US
dc.identifier.citationCangül, H., Doğan, M. ve Üstek, D. (2015). A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family.Journal of Clinical Research in Pediatric Endocrinology, 7(4), 323-328. https://dx.doi.org/10.4274/jcrpe.1920en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.urihttps://dx.doi.org/10.4274/jcrpe.1920
dc.identifier.urihttps://hdl.handle.net/20.500.12511/3037
dc.descriptionWOS: 000367653300010en_US
dc.descriptionPubMed ID: 26777044en_US
dc.description.abstractObjective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine the genetic basis of CH in two affected children coming from a consanguineous family. Methods: First, we investigated the potential genetic linkage of the family to any known CH locus using microsatellite markers and then screened for mutations in the linked gene by Sanger sequencing. By using next-generation sequencing, we also checked if any other mutation was present in the remaining 10 causative CH genes. Results: The family showed potential linkage to the TPO gene, and we detected a homozygous nonsense mutation (R540X) in both cases. The two patients had total iodide organification defect (TIOD). Both the microsatellite marker haplotypes and the mutation segregated with the disease status in the family, i.e. all healthy subjects were either heterozygous carriers or homozygous wild-type, confirming the pathogenic nature of the mutation. Neither was the mutation present in any of the 400 control chromosomes nor were there any other mutations in the remaining causative CH genes. Conclusion: This study proves the pathogenicity of R540X mutation and demonstrates the strong genotype/phenotype correlation associated with this mutation. It also highlights the power of working with familial cases in revealing the molecular basis of CH and in establishing accurate genotype/phenotype relationships associated with disease causing mutations.en_US
dc.language.isoengen_US
dc.publisherGalenos Publishingen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectThyroid Peroxidaseen_US
dc.subjectGeneen_US
dc.subjectMutationen_US
dc.subjectGeneticsen_US
dc.subjectMolecularen_US
dc.subjectCongenital Hypothyroidismen_US
dc.subjectThyroid Dyshormonogenesisen_US
dc.titleA homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous familyen_US
dc.typearticleen_US
dc.relation.journalJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.authorid0000-0002-0060-2859en_US
dc.identifier.volume7en_US
dc.identifier.issue4en_US
dc.identifier.startpage323en_US
dc.identifier.endpage328en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.4274/jcrpe.1920en_US


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