Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
Open accessAbstract
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T3) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Val, Arg171 stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.
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Allan-Herndon-Dudley syndrome is caused by inactivating mutations in the SLS16A2 gene encoding MCT8 transporter for T3 thyroid hormone.
“Another disorder associated with a BBB transporter dysfunction is Allan-Herndon-Dudley syndrome caused by inactivating mutations in SLS16A2 gene encoding MCT8 transporter for T 3 thyroid hormone (156, 185).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [185]
Inactivating mutations of MCT8 in males cause serum TH abnormalities and severe neuropsychomotor impairments.
“Inactivating mutations of MCT8 in males cause serum TH abnormalities and severe neuropsychomotor impairments (Dumitrescu et al., 2004; Friesema et al., 2004).”
From Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier (2017) · cites this paper as Friesema et al., 2004
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References 8 · Cited by 709
- Authors
- Friesema, E. C., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H., Kuiper, G. G., Balkassmi, S., Uitterlinden, A. G., Koehrle, J., Rodien, P., Halestrap, A. P., & Visser, T. J.
- Affiliations
- Erasmus MC (NL)
- Humboldt-Universität zu Berlin (DE)
- Juliana Kinderziekenhuis (NL)
- Birmingham Children's Hospital (GB)
- University of Chile (CL)
- Inserm (FR)
- University of Bristol (GB)
- Corresponding author
- Visser, Theo J
- ORCID
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2004-10
- Volume
- 364
- Issue
- 9443
- Pages
- 1435-1437
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W1975345061
- Cited by
- 709
- References
- 8
- Citations by year
- 2026: 21 · 2025: 24 · 2024: 33 · 2023: 28 · 2022: 37 · 2021: 41 · 2020: 29 · 2019: 35 · 2018: 20 · 2017: 36 · 2016: 28 · 2015: 40 · 2014: 44 · 2013: 40 · 2012: 25
- FWCI
- 17.01
- Type
- journal article
- Language
- en
- Open access
- Licence
- cc-by-nc-nd
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Bristol Research (University of Bristol) (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Universidad de Chile (submittedVersion, cc-by-nc-nd)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- MCT8, thyroid hormone transporters, triiodothyronine, gene deletion, missense mutations, thyroid hormone metabolism
- MeSH terms
- Child, Child, Preschool, Humans, Infant, Male, Intellectual Disability, Mutation, Psychomotor Disorders, Triiodothyronine, Gene Deletion, Mutation, Missense, Monocarboxylic Acid Transporters, Symporters, Genetic Diseases, X-Linked
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