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

Toshiyuki Yamamoto; Keiko Shimojima; Ayako Umemura; Mitsugu Uematsu; Tojo Nakayama; Ken Inoue

doi:10.1038/hgv.2014.10

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

Toshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, Mitsugu Uematsu, Tojo Nakayama, Ken Inoue

Pediatrics

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

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.

Original language	English
Article number	14010
Journal	Human Genome Variation
Volume	1
DOIs	https://doi.org/10.1038/hgv.2014.10
Publication status	Published - 2014

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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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.",

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AU - Yamamoto, Toshiyuki

AU - Shimojima, Keiko

AU - Umemura, Ayako

AU - Uematsu, Mitsugu

AU - Nakayama, Tojo

AU - Inoue, Ken

PY - 2014

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