Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Abstract Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some cas...

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Autores principales:	Hossein Darvish, Luis J. Azcona, Abbas Tafakhori, Mona Ahmadi, Azadeh Ahmadifard, Coro Paisán-Ruiz
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/9de323a647cb4eca849b68c8025aacfa
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spelling	oai:doaj.org-article:9de323a647cb4eca849b68c8025aacfa2021-12-02T11:42:12ZWhole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia10.1038/s41525-017-0022-72056-7944https://doaj.org/article/9de323a647cb4eca849b68c8025aacfa2017-06-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0022-7https://doaj.org/toc/2056-7944Abstract Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes identified, most of the underlying causes still remain unidentified. Moreover, a wide range of clinical manifestations is present in most hereditary spastic paraplegias subtypes, adding further complexity to their differential clinical diagnoses. Here, we describe the first exon rearrangement reported in the SPG45/SPG65 (NT5C2) loci in a family featuring a complex hereditary spastic paraplegias phenotype. This study expands both the phenotypic and mutational spectra of the NT5C2-associated disease.Hossein DarvishLuis J. AzconaAbbas TafakhoriMona AhmadiAzadeh AhmadifardCoro Paisán-RuizNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-4 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Hossein Darvish Luis J. Azcona Abbas Tafakhori Mona Ahmadi Azadeh Ahmadifard Coro Paisán-Ruiz Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
description	Abstract Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes identified, most of the underlying causes still remain unidentified. Moreover, a wide range of clinical manifestations is present in most hereditary spastic paraplegias subtypes, adding further complexity to their differential clinical diagnoses. Here, we describe the first exon rearrangement reported in the SPG45/SPG65 (NT5C2) loci in a family featuring a complex hereditary spastic paraplegias phenotype. This study expands both the phenotypic and mutational spectra of the NT5C2-associated disease.
format	article
author	Hossein Darvish Luis J. Azcona Abbas Tafakhori Mona Ahmadi Azadeh Ahmadifard Coro Paisán-Ruiz
author_facet	Hossein Darvish Luis J. Azcona Abbas Tafakhori Mona Ahmadi Azadeh Ahmadifard Coro Paisán-Ruiz
author_sort	Hossein Darvish
title	Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
title_short	Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
title_full	Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
title_fullStr	Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
title_full_unstemmed	Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
title_sort	whole genome sequencing identifies a novel homozygous exon deletion in the nt5c2 gene in a family with intellectual disability and spastic paraplegia
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/9de323a647cb4eca849b68c8025aacfa
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Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

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