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Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes.

Journal of genetics and genomics = Yi chuan xue bao - 20 Apr 2021

Wang Tao, Zhang Yi, Liu Liqui, Wang Yan, Chen Huiqian, Fan Tianda, Li Jinchen, Xia Kun, Sun Zhongsheng

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a set of complex disorders characterized by diverse and co-occurring clinical symptoms. The genetic contribution in patients with NDDs remains largely unknown. Here, we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations (DNMs) in 86 genes and 2,385...

Topics

Adaptor Proteins, Vesicular Transport
Animals
Autism Spectrum Disorder
Cell Adhesion Molecule-1
Child
China
Disease Models, Animal
Female
Filamins
Gene Expression Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, X-Linked

Genetic Predisposition to Disease

Hemizygote

Humans

Male

Mice

Mutation

Neurodevelopmental Disorders

Source

Identifiers

PMID: 33994118
DOI: 10.1016/j.jgg.2021.03.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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