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

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...

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Bibliographic Details
Published in:Npj genomic medicine 2017-06, Vol.2 (1), p.1-4, Article 20
Main Authors: Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro
Format: Article
Language:English
Subjects:
631/208/514/2254
692/699/375/365/1917
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Brief Communication
Gene Function
Gene Therapy
Human Genetics
Intellectual disabilities
Internal Medicine
Paralysis
Spasticity
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Summary: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.
ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-017-0022-7