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Article

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

HGG advances - 10 Jul 2025

McWalter Kirsty, Elloumi Houda Zghal, Sidlow Richard, Willis Ben, Bauer Andrew J

Abstract excerpt

Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked condition caused by pathogenic variants in the SLC16A2 gene, resulting in dysfunctional thyroid hormone transport throughout the body. Human Phenotype Ontology (HPO) terms provide a standardized clinical vocabulary of symptomology in human disease. Here, we contribute a cohort of individuals with fully categorized SLC16A2 variants and associated...

Read the complete abstract on PubMed

Topics

Humans
Monocarboxylic Acid Transporters
Phenotype
Male
Female
Child
Symporters

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Muscle Hypotonia

Child, Preschool

X-Linked Intellectual Disability

Mutation

Muscular Atrophy

Adolescent

Infant

Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 40369875
DOI: 10.1016/j.xhgg.2025.100455
PMCID: PMC12182792

Genes

SLC16A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Oct 2026.

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