MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and spoke no meaningful words, indicating severe develop...

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Detalles Bibliográficos
Autores principales: Wakabayashi, Kei, Osaka, Hitoshi, Kojima, Karin, Imaizumi, Taichi, Yamamoto, Toshiyuki, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886859/
https://www.ncbi.nlm.nih.gov/pubmed/33594047
http://dx.doi.org/10.1038/s41439-021-00142-0
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author Wakabayashi, Kei
Osaka, Hitoshi
Kojima, Karin
Imaizumi, Taichi
Yamamoto, Toshiyuki
Yamagata, Takanori
author_facet Wakabayashi, Kei
Osaka, Hitoshi
Kojima, Karin
Imaizumi, Taichi
Yamamoto, Toshiyuki
Yamagata, Takanori
author_sort Wakabayashi, Kei
collection PubMed
description MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and spoke no meaningful words, indicating severe developmental delay. Although missense or in-frame mutations of SLC16A2 are usually related to milder phenotypes and later-onset pyramidal signs, loss-of-function mutations are expected to cause severe clinical symptoms.
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spelling pubmed-78868592021-03-03 MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene Wakabayashi, Kei Osaka, Hitoshi Kojima, Karin Imaizumi, Taichi Yamamoto, Toshiyuki Yamagata, Takanori Hum Genome Var Data Report MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and spoke no meaningful words, indicating severe developmental delay. Although missense or in-frame mutations of SLC16A2 are usually related to milder phenotypes and later-onset pyramidal signs, loss-of-function mutations are expected to cause severe clinical symptoms. Nature Publishing Group UK 2021-02-16 /pmc/articles/PMC7886859/ /pubmed/33594047 http://dx.doi.org/10.1038/s41439-021-00142-0 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Wakabayashi, Kei
Osaka, Hitoshi
Kojima, Karin
Imaizumi, Taichi
Yamamoto, Toshiyuki
Yamagata, Takanori
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
title MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
title_full MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
title_fullStr MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
title_full_unstemmed MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
title_short MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
title_sort mct8 deficiency in a patient with a novel frameshift variant in the slc16a2 gene
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886859/
https://www.ncbi.nlm.nih.gov/pubmed/33594047
http://dx.doi.org/10.1038/s41439-021-00142-0
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