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Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-ex...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701303/ https://www.ncbi.nlm.nih.gov/pubmed/28652255 http://dx.doi.org/10.1101/mcs.a002014 |
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author | Inlora, Jingga Sailani, M. Reza Khodadadi, Hamidreza Teymurinezhad, Ahmad Takahashi, Shinichi Bernstein, Jonathan A. Garshasbi, Masoud Snyder, Michael P. |
author_facet | Inlora, Jingga Sailani, M. Reza Khodadadi, Hamidreza Teymurinezhad, Ahmad Takahashi, Shinichi Bernstein, Jonathan A. Garshasbi, Masoud Snyder, Michael P. |
author_sort | Inlora, Jingga |
collection | PubMed |
description | Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. Mutations in the APTX (OMIM 606350) gene are associated with ataxia with oculomotor apraxia type 1 (OMIM 208920). |
format | Online Article Text |
id | pubmed-5701303 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Cold Spring Harbor Laboratory Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-57013032017-12-04 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia Inlora, Jingga Sailani, M. Reza Khodadadi, Hamidreza Teymurinezhad, Ahmad Takahashi, Shinichi Bernstein, Jonathan A. Garshasbi, Masoud Snyder, Michael P. Cold Spring Harb Mol Case Stud Research Report Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing. To this end, we conducted whole-exome sequencing (WES) on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia. WES in five affected and six unaffected individuals resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. Mutations in the APTX (OMIM 606350) gene are associated with ataxia with oculomotor apraxia type 1 (OMIM 208920). Cold Spring Harbor Laboratory Press 2017-11 /pmc/articles/PMC5701303/ /pubmed/28652255 http://dx.doi.org/10.1101/mcs.a002014 Text en © 2017 Inlora et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted reuse and redistribution provided that the original author and source are credited. |
spellingShingle | Research Report Inlora, Jingga Sailani, M. Reza Khodadadi, Hamidreza Teymurinezhad, Ahmad Takahashi, Shinichi Bernstein, Jonathan A. Garshasbi, Masoud Snyder, Michael P. Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia |
title | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia |
title_full | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia |
title_fullStr | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia |
title_full_unstemmed | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia |
title_short | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia |
title_sort | identification of a novel mutation in the aptx gene associated with ataxia-oculomotor apraxia |
topic | Research Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701303/ https://www.ncbi.nlm.nih.gov/pubmed/28652255 http://dx.doi.org/10.1101/mcs.a002014 |
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