Publication: Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants
Issued Date
2020-03-01
Resource Type
ISSN
15579077
Other identifier(s)
2-s2.0-85081944935
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Mahidol University
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SCOPUS
Bibliographic Citation
Thyroid : official journal of the American Thyroid Association. Vol.30, No.3 (2020), 463-465
Suggested Citation
Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt, Tyler M. Pierson, Xiao Hui Liao, Samuel Refetoff, Roy E. Weiss, Alexandra M. Dumitrescu 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. Vol.30, No.3 (2020), 463-465. doi:10.1089/thy.2018.0703 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/53581
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Title
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.