ArticleHuman genetics2017
Expanding the genetic heterogeneity of intellectual disability.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 100 papers.
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Who cites it
100 citing papers in PubMed, 176 citations in OpenAlex.
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- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome.Molecular psychiatry · 2026Article
- Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.Scientific reports · 2026Article
- Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage.Molecular genetics & genomic medicine · 2026Article
- Editorial: Rare genetic disorders associated with intellectual disability.Frontiers in psychiatry · 2026Article
- Case report: Characterization of a patient with novel biallelic variants inFrontiers in genetics · 2026Article
- A De Novo Loss-of-FunctionChildren (Basel, Switzerland) · 2025Article
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- CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.BMC medical genomics · 2025Article
- Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.Orphanet journal of rare diseases · 2025Article
- A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.European journal of human genetics : EJHG · 2025Article
- ATP13A1 engages SEC61 to facilitate substrate-specific translocation.Science advances · 2025Article
- PCDHGA10 as a Potential Biomarker of Lung Squamous Cell Carcinoma Based on Bioinformatics and Experimental Verification.Molecular biotechnology · 2025Article
- Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.Journal of inherited metabolic disease · 2025Article
- Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?Biology open · 2025Review
- The WAVE complex in developmental and adulthood brain disorders.Experimental & molecular medicine · 2025Review
40 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
43 authors at 14 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related variants. In addition to established ID genes, including ones for which we describe unusual mutational mechanism, some of these variants represent the first confirmatory disease-gene links following previous reports (TRAK1, GTF3C3, SPTBN4 and NKX6-2), some of which were based on single families. Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, NCKAP1, NFASC, PCDHGA10, PPP1R21, SLC12A2, SLK, STK32C and ZFAT). We highlight MADD and PCDHGA10 as particularly compelling candidates in which we identified biallelic likely deleterious variants in two independent ID families each. We also highlight NCKAP1 as another compelling candidate in a large family with autosomal dominant mild intellectual disability that fully segregates with a heterozygous truncating variant. The candidacy of NCKAP1 is further supported by its biological function, and our demonstration of relevant expression in human brain. Our study expands the locus and allelic heterogeneity of ID and demonstrates the power of positional mapping to reveal unusual mutational mechanisms.
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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.