ArticleMetabolic brain disease2019
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.
Article in Metabolic brain disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Scientific reports · 2026Article
- Article
- Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.Nature communications · 2025Article
- Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.European journal of pediatrics · 2024Article
- Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan-Herndon-Dudley syndrome.European thyroid journal · 2024Review
- Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review.Frontiers in pediatrics · 2024Review
- Article
- Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of theFrontiers in pediatrics · 2022Article
- First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.Neurogenetics · 2021Article
- Review
- Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.The Journal of clinical endocrinology and metabolism · 2021Article
- Regulation of Thyroid-disrupting Chemicals to Protect the Developing Brain.Endocrinology · 2020Review
- Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?Frontiers in endocrinology · 2020Review
- MCT8 Deficiency: The Road to Therapies for a Rare Disease.Frontiers in neuroscience · 2020Review
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8 authors.
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Abstract
Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor disability and abnormal serum thyroid function tests, a syndrome known as MCT8 deficiency (or: Allan-Herndon-Dudley syndrome, AHDS). Although the majority of patients are unable to sit or walk independently and do not develop any speech, some are able to walk and talk in simple sentences. Here, we report on two cases with such a less severe clinical phenotype and consequent gross delay in diagnosis. Genetic analyses revealed two novel hemizygous mutations in the SLC16A2 gene resulting in a p.Thr239Pro and a p.Leu543Pro substitution in the MCT8 protein. In vitro studies in transiently transfected COS-1 and JEG-3 cells, and ex vivo studies in patient-derived fibroblasts revealed substantial residual uptake capacity of both mutant proteins (Leu543Pro > Thr239Pro), providing an explanation for the less severe clinical phenotype. Both mutations impair MCT8 protein stability and interfere with proper subcellular trafficking. In one of the patients calcifications were observed in the basal ganglia at the age of 29 years; an abnormal neuroradiological feature at this age that has been linked to untreated (congenital) hypothyroidism and neural cretinism. Our studies extend on previous work by identifying two novel pathogenic mutations in SLC16A2 gene resulting in a mild clinical phenotype.
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