ArticleHuman genetics2018
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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43 citing papers in PubMed, 75 citations in OpenAlex.
- Review
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- Division of labor among H3K4 methyltransferases defines distinct facets of homeostatic plasticity.Cell reports · 2025Article
- [Clinical characteristics of epilepsy with intellectual disability associated withZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Trithorax regulates long-term memory in Drosophila through epigenetic maintenance of mushroom body metabolic state and translation capacity.PLoS biology · 2025Article
- The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.NPJ genomic medicine · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Unveiling the hidden dangers: a review of non-apoptotic programmed cell death in anesthetic-induced developmental neurotoxicity.Cell biology and toxicology · 2024Review
- KMT2 Family of H3K4 Methyltransferases: Enzymatic Activity-dependent and -independent Functions.Journal of molecular biology · 2024Review
- Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports.World journal of clinical cases · 2024Article
- Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments.Human mutation · 2024Review
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F).International journal of molecular sciences · 2023Article
- Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.Human molecular genetics · 2023Review
- SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.EMBO reports · 2023Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- Rare diseases of epigenetic origin: Challenges and opportunities.Frontiers in genetics · 2023Review
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation. Previous studies have suggested that de novo microdeletions in the 12q24.3 region encompassing SETD1B were associated with developmental delays, intellectual disabilities, autism/autistic behavior, large stature and craniofacial anomalies. Comparative mapping of 12q24.3 deletions refined the candidate locus, indicating KDM2B and SETD1B to be the most plausible candidate genes for the pathogenicity of 12q24.3 deletion syndrome. Our cases showed epilepsy, developmental delay, intellectual disabilities, autistic behavior and craniofacial dysmorphic features, which are consistent with those of individuals with de novo 12q24.31 deletions. Therefore, our study suggests that SETD1B aberration is likely to be the core defect in 12q24.3 deletion syndrome.
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