ArticleEuropean journal of human genetics : EJHG2011
Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 66 citations in OpenAlex.
- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.Scientific reports · 2025Article
- Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI).Children (Basel, Switzerland) · 2024Article
- Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD).Genes · 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
- Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023Review
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants inBrain sciences · 2021Article
- Study of rare genetic variants inMeta gene · 2021Article
- Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment.Journal of speech, language, and hearing research : JSLHR · 2020Article
- Quantitative genome-wide association analyses of receptive language in the Danish High Risk and Resilience Study.BMC neuroscience · 2020Article
- The Genetic Population Structure of Robinson Crusoe Island, Chile.Frontiers in genetics · 2020Article
- A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI).European journal of human genetics : EJHG · 2019Article
- Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders.Molecular psychiatry · 2018Article
- Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.Pediatrics · 2016Article
- A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13.Genes, brain, and behavior · 2015Article
- Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.PLoS genetics · 2015Article
- Insights into the genetic foundations of human communication.Neuropsychology review · 2015Review
- Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.Molecular syndromology · 2015Review
- A common haplotype of KIAA0319 contributes to the phonological awareness skill in Chinese children.Behavioral and brain functions : BBF · 2014Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the aetiology of this disorder is only emerging. In this paper, we apply genome-wide techniques to investigate an isolated Chilean population who exhibit an increased frequency of SLI. Loss of heterozygosity (LOH) mapping and parametric and non-parametric linkage analyses indicate that complex genetic factors are likely to underlie susceptibility to SLI in this population. Across all analyses performed, the most consistently implicated locus was on chromosome 7q. This locus achieved highly significant linkage under all three non-parametric models (max NPL = 6.73, P = 4.0 × 10(-11)). In addition, it yielded a HLOD of 1.24 in the recessive parametric linkage analyses and contained a segment that was homozygous in two affected individuals. Further, investigation of this region identified a two-SNP haplotype that occurs at an increased frequency in language-impaired individuals (P = 0.008). We hypothesise that the linkage regions identified here, in particular that on chromosome 7, may contain variants that underlie the high prevalence of SLI observed in this isolated population and may be of relevance to other populations affected by language impairments.
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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.