ArticleJournal of neurodevelopmental disorders2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
Article in Journal of neurodevelopmental disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
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- VerteBrain reveals novel neural and non-neural protein assemblies conserved across vertebrate evolution.bioRxiv : the preprint server for biology · 2025Article
- Deciphering Alzheimer's disease transcriptomics: exploration and validation of core genes in tau and Aβ pathological models toward novel therapeutic targets.Frontiers in aging neuroscience · 2025Article
- Short- and long-term effects of radiation exposure at low dose and low dose rate in normal human VH10 fibroblasts.Frontiers in public health · 2023Article
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- Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
16 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundUltra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype data can enable novel gene associations in NDDs.
methodsWe performed WGS of six members from a three-generation family, where three individuals each had a spectrum of features suggestive of a NDD. CNVs and sequence-level variants were identified and further investigated in disease and control databases.
resultsWe identified a novel 252-kb deletion at 15q21 that overlaps the synaptic gene DMXL2 and the gene GLDN. The microdeletion segregated in NDD-affected individuals. Additional rare inherited and de novo sequence-level variants were found that may also be involved, including a missense change in GRIK5. Multiple CNVs and loss-of-function sequence variants affecting DMXL2 were discovered in additional unrelated individuals with a range of NDDs.
conclusionsDisruption of DMXL2 may predispose to NDDs including autism spectrum disorder. The robust interpretation of private variants requires a multifaceted approach that incorporates multigenerational pedigrees and genome-wide and population-scale data.
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