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

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

Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in...

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Bibliographic Details
Main Authors: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Fehmida Bibi, Adeel G. Chaudhary
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
NT5C2 gene
splice site mutation
developmental delay
microcephaly
spastic diplegia
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00014/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00014/full

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