ArticleHuman mutation2017
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Elucidating the role of DEAF1 in neurodevelopment and shared molecular pathways in high-risk autism genes using cortical organoids.Science advances · 2026Article
- Conserved transcription factors coordinate synaptic gene expression through repression.bioRxiv : the preprint server for biology · 2025Article
- Electrically polarized nanoscale surfaces generate reactive oxygenated and chlorinated species for deactivation of microorganisms.Science advances · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.Human molecular genetics · 2023Article
- Identification of two novel autism genes,Frontiers in psychiatry · 2023Article
- Vulto-van Silfhout-de Vries syndrome caused byFrontiers in neurology · 2023Article
- A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome.Diagnostics (Basel, Switzerland) · 2022Article
- STAU2 binds a complex RNA cargo that changes temporally with production of diverse intermediate progenitor cells during mouse corticogenesis.Development (Cambridge, England) · 2021Article
- Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders.Current opinion in genetics & development · 2020Review
- Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.Journal of human genetics · 2020Article
- Article
- De novo and biallelic DEAF1 variants cause a phenotypic spectrum.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.NPJ genomic medicine · 2018Article
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Deformed epidermal autoregulatory factor-1 (DEAF1), a transcription factor essential for central nervous system and early embryonic development, has recently been implicated in a series of intellectual disability-related neurodevelopmental anomalies termed, in this study, as DEAF1-associated neurodevelopmental disorder (DAND). We identified six potentially deleterious DEAF1 variants in a cohort of individuals with DAND via clinical exome sequencing (CES) and in silico analysis, including two novel de novo variants: missense variant c.634G > A p.Gly212Ser in the SAND domain and deletion variant c.913_915del p.Lys305del in the NLS domain, as well as c.676C > T p.Arg226Trp, c.700T > A p.Trp234Arg, c.737G > C p.Arg246Thr, and c.791A > C p.Gln264Pro. Luciferase reporter, immunofluorescence staining, and electrophoretic mobility shift assays revealed that these variants had decreased transcriptional repression activity at the DEAF1 promoter and reduced affinity to consensus DEAF1 DNA binding sequences. In addition, c.913_915del p.K305del localized primarily to the cytoplasm and interacted with wild-type DEAF1. Our results demonstrate that variants located within the SAND or NLS domains significantly reduce DEAF1 transcriptional regulatory activities and are thus, likely to contribute to the underlying clinical concerns in DAND patients. These findings illustrate the importance of experimental characterization of variants with uncertain significance identified by CES to assess their potential clinical significance and possible use in diagnosis.
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