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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

ABSTRACT: Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A150V) SLC16A2 mutation in Japanese AHDS patients from two different families. A150V co-segregated with S33P. Both patients showed similar clinical features including severe neurological features and delayed myelination. Thyroid function showed a common finding of elevated T3 levels. No clear genotype-phenotype correlation was observed in patients with SLC16A2 alterations.

SUBMITTER: Yamamoto T

PROVIDER: S-EPMC4785542 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.

Yamamoto Toshiyuki T Shimojima Keiko K Umemura Ayako A Uematsu Mitsugu M Nakayama Tojo T Inoue Ken K

Human genome variation 20141009

Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A150V) SLC16A2 mutation in Japanese AHDS patients from two different families. A150V co-segregated with S33P. Both patients showed similar clinical features including severe neurological features and de ...[more]

PMID: 27081503

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