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

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 (A1...

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Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Umemura, Ayako, Uematsu, Mitsugu, Nakayama, Tojo, Inoue, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785542/
https://www.ncbi.nlm.nih.gov/pubmed/27081503
http://dx.doi.org/10.1038/hgv.2014.10
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author Yamamoto, Toshiyuki
Shimojima, Keiko
Umemura, Ayako
Uematsu, Mitsugu
Nakayama, Tojo
Inoue, Ken
author_facet Yamamoto, Toshiyuki
Shimojima, Keiko
Umemura, Ayako
Uematsu, Mitsugu
Nakayama, Tojo
Inoue, Ken
author_sort Yamamoto, Toshiyuki
collection PubMed
description 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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spelling pubmed-47855422016-04-14 SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome Yamamoto, Toshiyuki Shimojima, Keiko Umemura, Ayako Uematsu, Mitsugu Nakayama, Tojo Inoue, Ken Hum Genome Var Data Report 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. Nature Publishing Group 2014-10-09 /pmc/articles/PMC4785542/ /pubmed/27081503 http://dx.doi.org/10.1038/hgv.2014.10 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Data Report
Yamamoto, Toshiyuki
Shimojima, Keiko
Umemura, Ayako
Uematsu, Mitsugu
Nakayama, Tojo
Inoue, Ken
SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
title SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
title_full SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
title_fullStr SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
title_full_unstemmed SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
title_short SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome
title_sort slc16a2 mutations in two japanese patients with allan–herndon–dudley syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785542/
https://www.ncbi.nlm.nih.gov/pubmed/27081503
http://dx.doi.org/10.1038/hgv.2014.10
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