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. gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in maint...
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Published in | Frontiers in genetics Vol. 11; p. 14 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
Frontiers Media S.A
21.02.2020
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Subjects | |
Online Access | Get full text |
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Summary: | Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias.
gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in maintaining the balance of purine nucleotides and free nucleobases in the spinal cord and brain. In this study we have identified a large consanguineous Saudi family segregating a novel homozygous splice site donor alteration in
gene leading to spastic diplegia cerebral palsy, developmental delay and microcephaly. Whole exome sequencing (WES) was performed for the affected members of the family to study the novel mutation. WES data analysis, confirmed by Sanger sequencing analysis, identifies a homozygous splice site donor alteration of possible interest in
(ENST00000343289: c.539+1G > T) at the sixth exon/intron boundaries. The mutation was further ruled out in 100 healthy control from normal population. The novel homozygous mutation observed in this study has not been reported in the literature or variant databases. The identified splicing alteration broadens the mutation spectrum of
gene in neurodevelopmental disorders. To the best of our knowledge this is the first report from Saudi Arabia. |
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Bibliography: | This article was submitted to Genomic Medicine, a section of the journal Frontiers in Genetics Reviewed by: Tahir Ali, University of Calgary, Canada; Musharraf Jelani, Islamia College University, Pakistan; Nacim Louhichi, IPEIS, Tunisia Edited by: Ahmed Rebai, Centre of Biotechnology of Sfax, Tunisia ORCID: Muhammad Imran Naseer, orcid.org/0000-0002-9343-5825 |
ISSN: | 1664-8021 1664-8021 |
DOI: | 10.3389/fgene.2020.00014 |