ArticleBMC genomics2017
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
Article in BMC genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly.Human genetics · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- Spatial Transcriptomics in Lung Cancer and Pulmonary Diseases: A Comprehensive Review.Cancers · 2025Review
- A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder.Clinical genetics · 2025Article
- Enhancing daily life for children with cognitive developmental delay through insights into brain development.Pediatric research · 2024Review
- A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.Molecular genetics & genomic medicine · 2024Article
- Comprehensive evaluation of the child with global developmental delays or intellectual disability.Clinical and experimental pediatrics · 2024Article
- GWAS advancements to investigate disease associations and biological mechanisms.Clinical and translational discovery · 2024Article
- Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.European journal of human genetics : EJHG · 2023Article
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Article
- Whole genome sequencing of 45 Japanese patients with intellectual disability.American journal of medical genetics. Part A · 2021Article
- Intellectual disability: dendritic anomalies and emerging genetic perspectives.Acta neuropathologica · 2021Review
- Article
- The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.BMC medical genomics · 2020Article
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
backgroundIntellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients.
methodsWe conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches.
resultsWe verified de novo pathogenic single nucleotide variants (SNV) in ARID1B c.1595delG and PHF6 c.820C > T, potentially causative de novo two base indels in SQSTM1 c.115_116delinsTA and UPF1 c.1576_1577delinsA, and de novo SNVs in CACNB3 c.1289G > A, and SPRY4 c.508 T > A, of uncertain significance. We report results from a large secondary control study of 2081 exomes probing the pathogenicity of the above genes. We analyzed structural variation by four different algorithms including de novo genome assembly. We confirmed a likely contributory 165 kb de novo heterozygous 1q43 microdeletion missed by clinical microarray. The de novo assembly resulted in unmasking hidden genome instability that was missed by standard re-alignment based algorithms. We also interrogated regulatory sequence variation for known and hypothesized ID genes and present useful strategies for WGS data analyses for non-coding variation.
conclusionThis study provides an extensive analysis of WGS in the context of ID, providing genetic and structural insights into ID and yielding diagnoses.
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