ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Consanguinity:Sultan Qaboos University medical journal · 2025Article
- Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD).Genes · 2024Article
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.eLife · 2024Article
- Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.Annals of human biology · 2023Article
- How to behave when marooned: the behavioural component of the island syndrome remains underexplored.Biology letters · 2022Review
- Long tracks of homozygosity predict the severity of alcohol use disorders in an American Indian population.Molecular psychiatry · 2021Article
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.medRxiv : the preprint server for health sciences · 2020Article
- Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity.American journal of human genetics · 2019Article
- Genome-wide tracts of homozygosity and exome analyses reveal repetitive elements with Barrets esophagus/esophageal adenocarcinoma risk.BMC bioinformatics · 2019Article
- Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.BMC medical genomics · 2019Article
- Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia.Frontiers in genetics · 2019Article
- Runs of homozygosity: windows into population history and trait architecture.Nature reviews. Genetics · 2018Review
- Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID).BMC genomics · 2017Article
- Article
- Heterozygosity Ratio, a Robust Global Genomic Measure of Autozygosity and Its Association with Height and Disease Risk.Genetics · 2016Article
- Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Molecular cytogenetics · 2015Article
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14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive variants in consanguineous families. Nevertheless, the effects of inbreeding on the degree of intellectual disability are still poorly investigated. Here, we present a detailed analysis of the homozygosity regions in a cohort of 612 patients with intellectual disabilities of different degrees.
methodsWe investigated (i) the runs of homozygosity distribution between syndromic and nonsyndromic ID (ii) the effect of runs of homozygosity on the ID degree, using the intelligence quotient score.
resultsOur data revealed no significant differences in the first analysis; instead we detected significantly larger runs of homozygosity stretches in severe ID compared to nonsevere ID cases (P = 0.007), together with an increase of the percentage of genome covered by runs of homozygosity (P = 0.03).
conclusionIn accord with the recent findings regarding autism and other neurological disorders, this study reveals the important role of autosomal recessive variants in intellectual disability. The amount of homozygosity seems to modulate the degree of cognitive impairment despite the intellectual disability cause.
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