Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

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dc.contributor.authorCangül, Hakan
dc.contributor.authorLiao, Xiao-Hui
dc.contributor.authorSchoenmakers, Erik
dc.contributor.authorKero, Jukka
dc.contributor.authorBarone, Sharon
dc.contributor.authorSrichomkwun, Panudda
dc.contributor.authorLwayama, Hideyuki
dc.contributor.authorSerra, Eva G.
dc.contributor.authorSağlam, Halil
dc.contributor.authorEren, Erdal
dc.contributor.authorTarım, Ömer
dc.contributor.authorNicholas, Adeline K.
dc.contributor.authorZvetkova, Ilona
dc.contributor.authorAnderson, Carl A.
dc.contributor.authorFrankl, Fiona E. Karet
dc.contributor.authorBoelaert, Kristien
dc.contributor.authorOjaniemi, Marja
dc.contributor.authorJaaskelainen, Jarmo
dc.contributor.authorPatyra, Konrad
dc.contributor.authorLof, Christoffer
dc.contributor.authorWilliams, E. Dillwyn
dc.contributor.authorConsortium, Ukk
dc.contributor.authorSoleimani, Manoocher
dc.contributor.authorBarrett, Timothy
dc.contributor.authorMaher, Eamonn R.
dc.contributor.authorChatterjee, V. Krishna
dc.contributor.authorRefetoff, Samuel
dc.contributor.authorSchoenmakers, Nadia
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:50:05Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T19:50:05Z
dc.date.issued2018
dc.departmentİstanbul Medipol Üniversitesi, Uluslararası Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.descriptionWOS: 000447709700003
dc.descriptionPubMed ID: 30333321
dc.description.abstractDefects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation. SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. However, in contrast to pendrin, SLC26A7 does not mediate cellular iodide efflux and hearing in affected individuals is normal. We delineate a hitherto unrecognized role for SLC26A7 in thyroid hormone biosynthesis, for which the mechanism remains unclear.
dc.description.sponsorshipWellcome Trust; NIDDK NIH HHS [R37 DK015070, R01 DK015070]; Medical Research Council [MC_UU_12012/5, G0600717, G0502115]en_US
dc.identifier.citationCangül, H., Liao, X., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P. ... Schoenmakers, N. (2018). Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight, 3(20). https://dx.doi.org/10.1172/jci.insight.99631
dc.identifier.doi10.1172/jci.insight.99631
dc.identifier.issn2379-3708
dc.identifier.issue20
dc.identifier.scopusqualityN/A
dc.identifier.urihttps://dx.doi.org/10.1172/jci.insight.99631
dc.identifier.urihttps://hdl.handle.net/20.500.12511/1873
dc.identifier.volume3
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherAmerican Society for Clinical Investigation Inc
dc.relation.ispartofJCI Insighten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subjectVestibular Aqueduct
dc.subjectHearing Loss
dc.subjectAqueduct EVA
dc.titleHomozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
dc.typeArticle

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