A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome

Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused...

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Autores principales: Yamamoto, Sayaka, Okuhara, Koji, Tonoki, Hidefumi, Iizuka, Susumu, Nihei, Noriko, Tajima, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2013
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809735/
https://www.ncbi.nlm.nih.gov/pubmed/24170966
http://dx.doi.org/10.1297/cpe.22.83
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author Yamamoto, Sayaka
Okuhara, Koji
Tonoki, Hidefumi
Iizuka, Susumu
Nihei, Noriko
Tajima, Toshihiro
author_facet Yamamoto, Sayaka
Okuhara, Koji
Tonoki, Hidefumi
Iizuka, Susumu
Nihei, Noriko
Tajima, Toshihiro
author_sort Yamamoto, Sayaka
collection PubMed
description Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid hormone transporter 8 (MCT8). Here we describe a 26-year -old Japanese patient with AHDS who had deletion of exon 3 of SLC16A2.
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spelling pubmed-38097352013-10-29 A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome Yamamoto, Sayaka Okuhara, Koji Tonoki, Hidefumi Iizuka, Susumu Nihei, Noriko Tajima, Toshihiro Clin Pediatr Endocrinol Mutation-in-Brief Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid hormone transporter 8 (MCT8). Here we describe a 26-year -old Japanese patient with AHDS who had deletion of exon 3 of SLC16A2. The Japanese Society for Pediatric Endocrinology 2013-10-26 2013-10 /pmc/articles/PMC3809735/ /pubmed/24170966 http://dx.doi.org/10.1297/cpe.22.83 Text en 2013©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Mutation-in-Brief
Yamamoto, Sayaka
Okuhara, Koji
Tonoki, Hidefumi
Iizuka, Susumu
Nihei, Noriko
Tajima, Toshihiro
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
title A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
title_full A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
title_fullStr A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
title_full_unstemmed A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
title_short A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
title_sort novel deletion mutation of slc16a2 encoding monocarboxylate transporter (mct) 8 in a 26-year-old japanese patient with allan-herndon-dudley syndrome
topic Mutation-in-Brief
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809735/
https://www.ncbi.nlm.nih.gov/pubmed/24170966
http://dx.doi.org/10.1297/cpe.22.83
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