Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia-Reference-Cited by-同舟云学术

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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

Published:2017-06-01 Issue:1 Volume:2 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genomic Med

Author:

Darvish Hossein,Azcona Luis J.,Tafakhori Abbas,Ahmadi Mona,Ahmadifard Azadeh,Paisán-Ruiz Coro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/s41525-017-0022-7.pdf

Reference11 articles.

1. Blackstone, C. Cellular pathways of hereditary spastic paraplegia. Annu. Rev. Neurosci. 35, 25–47 (2012).

2. Klebe, S., Stevanin, G. & Depienne, C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev. Neurol. (Paris) 171, 505–530 (2015).

3. Dursun, U., Koroglu, C., Kocasoy Orhan, E., Ugur, S. A. & Tolun, A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics 10, 325–331 (2009).

4. Novarino, G. et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506–511 (2014).

5. Elsaid, M. F. et al. NT5C2 novel splicing variant expands the phenotypic spectrum of spastic paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC Med. Genet. 18, 33 (2017).

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1. Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in <i>NT5C2</i> Gene: Concomitant <i>RYR1</i> Gene in One Sibling;Molecular Syndromology;2024

2. Ataxia and spasticity;Neurogenetics for the Practitioner;2024

3. Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis;Frontiers in Genetics;2021-12-06

4. Metabolic Aspects of Adenosine Functions in the Brain;Frontiers in Pharmacology;2021-05-14

5. Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability;Frontiers in Genetics;2020-02-21

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