Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review

Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to car...

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Autores principales: Liu, Nan, Chen, Jiajun, Xu, Chuan, Shi, Tianji, Li, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693153/
https://www.ncbi.nlm.nih.gov/pubmed/31427910
http://dx.doi.org/10.1186/s41065-019-0104-x
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author Liu, Nan
Chen, Jiajun
Xu, Chuan
Shi, Tianji
Li, Jia
author_facet Liu, Nan
Chen, Jiajun
Xu, Chuan
Shi, Tianji
Li, Jia
author_sort Liu, Nan
collection PubMed
description Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to carry the same heterozygous missense mutation (c.1093A > G; p.Gly495Arg), while the patient’s mother does not carry this mutation. This is the first report of this heterozygous IFIH1 mutation and it is predicted to be disease-causing.
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spelling pubmed-66931532019-08-19 Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review Liu, Nan Chen, Jiajun Xu, Chuan Shi, Tianji Li, Jia Hereditas Brief Report Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to carry the same heterozygous missense mutation (c.1093A > G; p.Gly495Arg), while the patient’s mother does not carry this mutation. This is the first report of this heterozygous IFIH1 mutation and it is predicted to be disease-causing. BioMed Central 2019-08-13 /pmc/articles/PMC6693153/ /pubmed/31427910 http://dx.doi.org/10.1186/s41065-019-0104-x Text en © The Author(s) 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Brief Report
Liu, Nan
Chen, Jiajun
Xu, Chuan
Shi, Tianji
Li, Jia
Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
title Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
title_full Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
title_fullStr Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
title_full_unstemmed Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
title_short Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review
title_sort hereditary spastic paraplegia associated with a rare ifih1 mutation: a case report and literature review
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693153/
https://www.ncbi.nlm.nih.gov/pubmed/31427910
http://dx.doi.org/10.1186/s41065-019-0104-x
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