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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.

ABSTRACT: Mutations in the cell membrane thyroid hormone (TH) transporter monocarboxylate transporter (MCT) 8 produce severe neuropsychomotor defects and characteristic thyroid function test (TFT) abnormalities. Two children with mild neurological phenotypes and normal TFTs were found to harbor MCT8 gene variants of unknown significance (VUS), MCT8-R388Q that occurred de novo, and MCT8-Q212E. Normal TH transport and action in fibroblasts of MCT8-R388Q was demonstrated in a novel nonradioactive functional assay measuring the intracellular TH availability after L-T3 treatment. No genotype-phenotype correlation was found in additional family members carrying MCT8-Q212E. For the field of MCT8 deficiency, it is important to assess the significance of MCT8 gene VUS.

SUBMITTER: Fu J 

PROVIDER: S-EPMC7074892 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel <i>MCT8</i> Variants.

Fu Jiao J   Korwutthikulrangsri Manassawee M   Ramos-Platt Leigh L   Pierson Tyler M TM   Liao Xiao Hui XH   Refetoff Samuel S   Weiss Roy E RE   Dumitrescu Alexandra M AM  

Thyroid : official journal of the American Thyroid Association 20200124 3

Mutations in the cell membrane thyroid hormone (TH) transporter monocarboxylate transporter (MCT) 8 produce severe neuropsychomotor defects and characteristic thyroid function test (TFT) abnormalities. Two children with mild neurological phenotypes and normal TFTs were found to harbor <i>MCT8</i> gene variants of unknown significance (VUS), MCT8-R388Q that occurred <i>de novo,</i> and MCT8-Q212E. Normal TH transport and action in fibroblasts of MCT8-R388Q was demonstrated in a novel nonradioacti  ...[more]

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