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

Defects 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 specie...

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發表在:JCI Insight
Main Authors: Cangul, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Iwayama, Hideyuki, Serra, Eva G., Saglam, Halil, Eren, Erdal, Tarim, Omer, Nicholas, Adeline K., Zvetkova, Ilona, Anderson, Carl A., Frankl, Fiona E. Karet, Boelaert, Kristien, Ojaniemi, Marja, Jääskeläinen, Jarmo, Patyra, Konrad, Löf, Christoffer, Williams, E. Dillwyn, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R., Chatterjee, V. Krishna, Refetoff, Samuel, Schoenmakers, Nadia
格式: Artigo
語言:Inglês
出版: American Society for Clinical Investigation 2018
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6237461/
https://ncbi.nlm.nih.gov/pubmed/30333321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.99631
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