ArticleBMC medical genomics2021
Exome sequencing identifies novel and known mutations in families with intellectual disability.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.Annals of neurology · 2024Pooled it
- Structural basis for modulation of group III mGlu receptors by transsynaptic interactions.Science advances · 2026Article
- Trans-synaptic Interaction with mGluR6 Contributes to ELFN1 Presynaptic Enrichment in Rod Photoreceptors.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Distinct autoregulatory roles of ELFN1 intracellular and extracellular domains on membrane trafficking, synaptic localization, and dimerization.The Journal of biological chemistry · 2025Article
- Pathogenic RBiochemistry · 2024Article
- METTL Family in Healthy and Disease.Molecular biomedicine · 2024Review
- Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.Scientific reports · 2024Article
- Genomic analysis identifies risk factors in restless legs syndrome.medRxiv : the preprint server for health sciences · 2023Article
- A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.Journal of molecular neuroscience : MN · 2023Article
- Exposure to Antibiotics and Neurodevelopmental Disorders: Could Probiotics Modulate the Gut-Brain Axis?Antibiotics (Basel, Switzerland) · 2022Review
- Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIntellectual disability (ID) is a phenotypically and genetically heterogeneous disorder.
methodsIn this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected individuals had speech delay, facial dysmorphism and impaired cognitive abilities. Repetitive behavior was observed in MRID143, while seizures were reported in affected individuals belonging to MRID137 and MRID175.
resultsIn two families (MRID137b and MRID175), we identified variants in the genes CCS and ELFN1, which have not previously been reported to cause ID. In four families, variants were identified in ARX, C5orf42, GNE and METTL4. A copy number variation (CNV) was identified in IL1RAPL1 gene in MRID165.
conclusionThese findings expand the existing knowledge of variants and genes implicated in autosomal recessive and X linked ID.
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Registered trials
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.