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Article

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

Scientific reports - 1 Mar 2026

Sun Xiaoang, Wang Chao, Lin Longlong, Lan Xiaoping, Wu Shengnan, Chen Xuqin, Cai Cheng

Abstract excerpt

This study elucidates the molecular pathogenesis of neurodevelopmental deficits in Chinese Allan-Herndon-Dudley syndrome (AHDS) patients caused by pathogenic SLC16A2 mutations. Genetic analysis of three Han Chinese patients with severe intellectual disability and global developmental delay identified two novel truncating mutations (c.1093del [p.A365Lfs35] and c.270_271del [p.G91Lfs28]) and a hemizygous de novo...

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Source

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Identifiers

PMID: 41765929
DOI: 10.1038/s41598-026-40703-3
PMCID: PMC13056955

Genes

SLC16A2
KIF9
DIO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.PMID 41765929Read ↗

Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China.Semantic proximity Read ↗

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.Semantic proximity Read ↗

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[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].Semantic proximity Read ↗

Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.Semantic proximity Read ↗

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Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.Semantic proximity Read ↗

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