ArticleEuropean journal of human genetics : EJHG2024
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.Journal of neurodevelopmental disorders · 2026Article
- Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.Epilepsia open · 2026Article
- Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.Human molecular genetics · 2026Article
- The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities.Scientific reports · 2026Article
- A novelFrontiers in neuroscience · 2026Article
- Broadening the inheritedGenetics in medicine open · 2026Article
- Identification of Novel Co-OccurringThe application of clinical genetics · 2026Article
- Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases.Frontiers in pediatrics · 2026Review
- Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.Frontiers in medicine · 2026Article
- Identification of De NovoInternational journal of pediatrics · 2026Article
- [Clinical characteristics of epilepsy with intellectual disability associated withZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- First reported case of de Novo claes-jensen syndrome (CJS) in Palestine: diagnostic challenges and genetic insights.BMC pediatrics · 2025Article
- GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal.Epilepsia open · 2025Review
- A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.Diagnostics (Basel, Switzerland) · 2025Article
- Analysis of the abundance and diversity of RNA secondary structure elements in RNA viruses using the RNAsselem Python package.Scientific reports · 2024Article
- Genomic testing in Low- and Middle-Income Countries (LMIC).European journal of human genetics : EJHG · 2024Article
- Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.Orphanet journal of rare diseases · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 7 institutions in 4 countries.
Funding
Abstract
The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants. We also emphasize on the effectiveness of singleton exome sequencing as a valuable tool for diagnosing these disorders in resource limited settings. Overall, 46 distinct disorders were identified encompassing 46 genes with 51 single-nucleotide variants and/or indels and two copy-number variants. Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, QRICH1, DCX, SMARCD1, ASXL1, ASXL3, AKT3, FBN2, TCF12, WASF1, BRAF, SMARCA4, SMARCA2, TUBG1, KMT2A, CTNNB1, DLG4, MEIS2, GATAD2B, FBXW7, ANKRD11, ARID1B, DYNC1H1, HIVEP2, NEXMIF, ZBTB18, SETD1B, DYRK1A, SRCAP, CASK, L1CAM, and KRAS. Twenty-four of these monogenic disorders have not been previously reported in the Indian population. Notably, 39 out of 53 (74%) disease-causing variants are novel. These variants were identified in the genes mainly encoding transcriptional and chromatin regulators, serine threonine kinases, lysosomal enzymes, molecular motors, synaptic proteins, neuronal migration machinery, adhesion molecules, structural proteins and signaling molecules.
Indexed as
Identifiers
What OpenQuestion holds
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.