ArticleHuman genetics2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
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 40 papers.
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Who cites it
40 citing papers in PubMed.
- A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance.Biochemical genetics · 2026Article
- Non-Synaptic Function and Localization of Syntaxin-Binding Protein 1 in a Mouse Model of STXBP1-Related Epileptic Encephalopathy.Annals of neurology · 2026Article
- Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.Human genomics · 2025Article
- Nonvesicular cholesterol transport in physiology.The Journal of clinical investigation · 2025Review
- TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.International journal of molecular sciences · 2024Review
- Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.Neurogenetics · 2024Article
- An in-depth review of the function of RNA-binding protein FXR1 in neurodevelopment.Cell and tissue research · 2024Review
- Article
- Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.BMC medical genomics · 2024Article
- The FXR1 network acts as signaling scaffold for actomyosin remodeling.bioRxiv : the preprint server for biology · 2024Article
- Tet controls axon guidance in early brain development through glutamatergic signaling.iScience · 2024Article
- The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.Molecular genetics & genomic medicine · 2024Article
- TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.Brain : a journal of neurology · 2024Article
- Regulation of cellular cholesterol distribution via non-vesicular lipid transport at ER-Golgi contact sites.Nature communications · 2023Article
- Cholesterol Transport to the Endoplasmic Reticulum.Cold Spring Harbor perspectives in biology · 2023Review
- The Genetics of Intellectual Disability.Brain sciences · 2023Review
- A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.Genes · 2022Article
- The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Scientific reports · 2022Article
- NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Molecular genetics and genomics : MGG · 2022Article
- Deficiency of Tet3 in nucleus accumbens enhances fear generalization and anxiety-like behaviors in mice.Brain pathology (Zurich, Switzerland) · 2022Article
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Authors and funding
23 authors.
Funding
Abstract
Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed using DNA samples from 22 consanguineous Pakistani families with ARID, of which 21 have additional phenotypes including microcephaly. To aid in variant identification, homozygosity mapping and linkage analysis were performed. DNA samples from affected family member(s) from every pedigree underwent exome sequencing. Identified rare damaging exome variants were tested for co-segregation with ID using Sanger sequencing. For seven ARID families, variants were identified in genes not previously associated with ID, including: EI24, FXR1 and TET3 for which knockout mouse models have brain defects; and CACNG7 and TRAPPC10 where cell studies suggest roles in important neural pathways. For two families, the novel ARID genes CARNMT1 and GARNL3 lie within previously reported ID microdeletion regions. We also observed homozygous variants in two ID candidate genes, GRAMD1B and TBRG1, for which each has been previously reported in a single family. An additional 14 families have homozygous variants in established ID genes, of which 11 variants are novel. All ARID genes have increased expression in specific structures of the developing and adult human brain and 91% of the genes are differentially expressed in utero or during early childhood. The identification of novel ARID candidate genes and variants adds to the knowledge base that is required to further understand human brain function and development.
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