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Article

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

Thyroid : official journal of the American Thyroid Association - 1 Mar 2020

Fu Jiao, Korwutthikulrangsri Manassawee, Ramos-Platt Leigh, Pierson Tyler M, Liao Xiao Hui, Refetoff Samuel, Weiss Roy E, Dumitrescu Alexandra M

Abstract excerpt

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...

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Identifiers

PMID: 31856685
DOI: 10.1089/thy.2018.0703
PMCID: PMC7074892

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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