The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism

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dc.contributor.authorCangül, Hakan
dc.contributor.authorDemir, Korcan
dc.contributor.authorBabayiğit, Ömür
dc.contributor.authorAbacı, Ayhan
dc.contributor.authorBöber, Ece
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.issued2015
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.descriptionWOS: 000360842500013
dc.descriptionPubMed ID: 26831560
dc.description.abstractCongenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. We present an 8-day-old male with mild CH who was identified to have a G to A transition in the fifth codon of the TPO gene (c.13G>A; p.Ala5Thr). The unaffected family members were heterozygous carriers of the mutation, whereas 400 healthy individuals of the same ethnic background did not have the mutation. Mutation analysis of 11 known causative CH genes and 4 of our own strong candidate genes with next-generation sequencing revealed no mutations in the patient nor in any other family members. The results of in silico functional analyses indicated partial loss-of-function (LOF) in the resulting enzyme molecule due to mutation. The patient's clinical finding s were consistent with the effect of this partial LOF of the mutation. In conclusion, we strongly believe that A5T alteration in the TPO gene is actually pathogenic and suggest that it should be classified as a mutation.
dc.identifier.citationCangül, H., Demir, K., Babayiğit, Ö., Abacı, A. ve Böber, E. (2015). The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology, 7(3), 238-241. https://dx.doi.org/10.4274/jcrpe.2017
dc.identifier.doi10.4274/jcrpe.2017
dc.identifier.endpage241
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue3
dc.identifier.scopusqualityQ2
dc.identifier.startpage238
dc.identifier.urihttps://dx.doi.org/10.4274/jcrpe.2017
dc.identifier.urihttps://hdl.handle.net/20.500.12511/3038
dc.identifier.volume7
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Publishing
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCongenital Hypothyroidism
dc.subjectThyroid Dyshormonogenesis
dc.subjectThyroid Peroxidase
dc.titleThe missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism
dc.typeArticle

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