ESPEYB16 3. Thyroid New Genes (3 abstracts)
3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Cangul H , Liao XH , Schoenmakers E , Kero J , Barone S , Srichomkwun P , Iwayama H , Serra EG , Saglam H , Eren E , Tarim O , Nicholas AK , Zvetkova I , Anderson CA , Frankl FEK , Boelaert K , Ojaniemi M , Jääskeläinen J , Patyra K , Löf C , Williams ED , UK10K Consortium , Soleimani M , Barrett T , Maher ER , Chatterjee VK , Refetoff S & Schoenmakers N
To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.
This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new form of thyroid dyshormonogenesis. All patients were detected by neonatal screening, presenting with moderate to severe congenital hypothyroidism, while goiter was detected in only 8 of 15 patients, possibly due to differences in nutritional iodine uptake.
Additionally, Slc26a7 knockout studies in mice reproduced the phenotype of thyroid dyshormonogenesis with goiter. However, in vitro studies showed reduced iodine uptake rather than an organification defect as the consequence of defective Slc26a7 function. Thus, the molecular aspects could not be ultimately clarified and will need further investigations. Nevertheless, the authors provide robust genetic and clinical evidence for a novel form of thyroid dyshormonogenesis, in accordance with another independent publication on SLC26A7 mutations [1].
Reference: 1. Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, l-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, Al-Faham MSA, Baitei EY, Alsagheir A, Meyer BF, Shi Y. Molecular analysis of congenital hypothyroidism in Saudi Arabia: SLC26A7 mutation is a novel defect in thyroid dyshormonogenesis. J Clin Endocrinol Metab 2018;103;1889–98.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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