Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review

BackgroundHereditary neurodevelopmental disorders (NDDs) are prevalent in poorly prognostic pediatric diseases, but the pathogenesis of NDDs is still unclear. Irregular myelination could be one of the possible causes of NDDs.Case presentationHere, whole exome sequencing was carried out for a consang...

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Bibliographic Details
Main Authors: Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-05-01
Series:Frontiers in Genetics
Subjects:
neurodevelopmental disorders (NDDs)
myelination
DOP1A
Mon2
proteolipid protein (PLP)
myelin-associate glycoprotein (MAG)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1351710/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1351710/full

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