Searchable abstracts of presentations at key conferences in endocrinology

ea0084op-11-58 | Oral Session 11: Young Investigators / Basic | ETA2022

Integrated genomic, phenomic, functional and structural mapping of variants in thyroid hormone transporter MCT8

Groeneweg Stefan , Van Geest Ferdy , martin mariano , Dias Mafalda , Frazer Jonathan , Sterenborg Rosalie , de rooij linda , dolcetta-capuzzo anna , teumer alexander , Meima Marcel , Medici Marco , pablo nicola juan , marks debora , Edward Visser W.

Background: MCT8 deficiency is caused by loss-of-function (LoF) mutations in thyroid hormone (TH) transporter MCT8. Patients have developmental delay and abnormal thyroid function tests (TFTs). The large phenotypic variability is not understood. Moreover, phenotypes arising from LoF mutations could be employed to enhance understanding of physiology in the general population. Also, computational disease variant classifiers have poor predictive power to ascertain impact of MCT8 ...