ArticlePloS one2014
Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.Molecular biology reports · 2021Pooled it
- Analyses of GWAS signal using GRIN identify additional genes contributing to suicidal behavior.Communications biology · 2024Article
- KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.American journal of human genetics · 2022Article
- Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Journal of clinical laboratory analysis · 2022Article
- Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.Clinical genetics · 2022Article
- The disease-associated proteins Drosophila Nab2 and Ataxin-2 interact with shared RNAs and coregulate neuronal morphology.Genetics · 2022Article
- Novel variant inFrontiers in endocrinology · 2022Article
- Structure, mechanism, and inhibition of Hedgehog acyltransferase.Molecular cell · 2021Article
- Bioinformatic analysis of the expression and prognosis of ZNF589 in human breast cancer.Translational cancer research · 2021Article
- Construction of a ceRNA immunoregulatory network related to the development of vascular dementia through a weighted gene coexpression network analysis.Annals of translational medicine · 2021Article
- Palmitoylation of Hedgehog proteins by Hedgehog acyltransferase: roles in signalling and disease.Open biology · 2021Review
- CFrontiers in neurology · 2020Review
- Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability.International journal of environmental research and public health · 2018Article
- Histone Lysine Methylation and Neurodevelopmental Disorders.International journal of molecular sciences · 2017Review
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes implicated in the disease. Therefore the purpose of the present study was to identify the genetic cause of ID in one syndromic and two non-syndromic Pakistani families. Whole exome of three ID probands was sequenced. Missense variations in two plausible novel genes implicated in autosomal recessive ID were identified: lysine (K)-specific methyltransferase 2B (KMT2B), zinc finger protein 589 (ZNF589), as well as hedgehog acyltransferase (HHAT) with a de novo mutation with autosomal dominant mode of inheritance. The KMT2B recessive variant is the first report of recessive Kleefstra syndrome-like phenotype. Identification of plausible causative mutations for two recessive and a dominant type of ID, in genes not previously implicated in disease, underscores the large genetic heterogeneity of ID. These results also support the viewpoint that large number of ID genes converge on limited number of common networks i.e. ZNF589 belongs to KRAB-domain zinc-finger proteins previously implicated in ID, HHAT is predicted to affect sonic hedgehog, which is involved in several disorders with ID, KMT2B associated with syndromic ID fits the epigenetic module underlying the Kleefstra syndromic spectrum. The association of these novel genes in three different Pakistani ID families highlights the importance of screening these genes in more families with similar phenotypes from different populations to confirm the involvement of these genes in pathogenesis of ID.
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