Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.

ABSTRACT:

Context

Genetic variants in SLC16A2, encoding the thyroid hormone transporter MCT8, can cause intellectual and motor disability and abnormal serum thyroid function tests, known as MCT8 deficiency. The C-terminal domain of MCT8 is poorly conserved, which complicates prediction of the deleteriousness of variants in this region. We studied the functional consequences of 5 novel variants within this domain and their relation to the clinical phenotypes.

Methods

We enrolled male subjects with intellectual disability in whom genetic variants were identified in exon 6 of SLC16A2. The impact of identified variants was evaluated in transiently transfected cell lines and patient-derived fibroblasts.

Results

Seven individuals from 5 families harbored potentially deleterious varia

SUBMITTER: van Geest FS 

PROVIDER: S-EPMC7823235 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature