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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Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2018
Assuntos:
Research Article
Acceso en liña: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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