ArticleNeurogenetics2020
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Article in Neurogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.European journal of human genetics : EJHG · 2026Article
- Article
- Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice.Nature communications · 2025Article
- Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.Genome research · 2024Article
- Highlighting the Dystonic Phenotype Related to GNAO1.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review.Journal of neurodevelopmental disorders · 2022Review
- Article
- Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination.Autism research : official journal of the International Society for Autism Research · 2020Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microduplication syndrome, encompassing CHD8 and SUPT16H, has been described, highlighting the importance of a tight control of at least CHD8 gene-dosage for a normal development. There have been only a few reports of 14q11.2 microduplications. Patients showed variable neurodevelopmental issues of variable severity. Breakpoints of the microduplications were non-recurrent, making interpretation of the CNV and determination of their clinical relevance difficult. Here, we report on two patients with 14q11.2 microduplication encompassing CHD8 and SUPT16H, one of whom had normal intelligence. Review of previous reports describing patients with comparable microduplications allowed for a more precise delineation of the condition and widening of the phenotypic spectrum.
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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.