ArticleEuropean journal of human genetics : EJHG2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 50 citations in OpenAlex.
- Complementary vertebrateeLife · 2026Article
- Neurobehavioral Impacts of the Autism Risk Gene, WAC: Studies Involving C. elegans and Mice.Molecular neurobiology · 2026Article
- Complimentary vertebratebioRxiv : the preprint server for biology · 2025Article
- Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.Genome medicine · 2025Article
- Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India.Molecular and cellular pediatrics · 2025Article
- Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.Human genetics · 2025Article
- WAC Facilitates Mitophagy-mediated MSC Osteogenesis and New Bone Formation via Protecting PINK1 from Ubiquitination-Dependent Degradation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development.Medical molecular morphology · 2023Article
- A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations.Cureus · 2023Article
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- Sex-biased expression is associated with chromatin state inbioRxiv : the preprint server for biology · 2023Article
- Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.Molecular genetics & genomic medicine · 2022Article
- The gut-microbiota-brain axis in autism: what Drosophila models can offer?Journal of neurodevelopmental disorders · 2021Review
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- Article
- A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation.Case reports in pediatrics · 2020Article
- Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders.Biological psychiatry · 2019Article
- Conservation of the behavioral and transcriptional response to social experience among Drosophilids.Genes, brain, and behavior · 2019Article
- Temporally specific engagement of distinct neuronal circuits regulating olfactory habituation ineLife · 2018Article
- DeSanto-Shinawi Syndrome: First Case in South America.Molecular syndromology · 2018Article
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Authors and funding
30 authors at 9 institutions in 3 countries.
Funding
Abstract
Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.