ArticlePediatrics2016
Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.
Article in Pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 69 citations in OpenAlex.
- Behavioral and Prefrontal Circuit Deficits in a Newly DevelopedBiological psychiatry global open science · 2026Article
- Natural selection and language genes in humans.Scientific reports · 2026Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Language, Motor Ability and Related Deficits in Children at Familial Risk of Schizophrenia or Bipolar Disorder.Schizophrenia bulletin · 2025Article
- NT5DC2 downregulation suppresses monoamine oxidase activity and promotes catecholamine synthesis in PC12D cells.Molecular biology reports · 2025Article
- Whole Exome Sequencing in 26 Saudi Patients Expands the Mutational and Clinical Spectrum of Diabetic Nephropathy.Medicina (Kaunas, Lithuania) · 2025Article
- Distribution of NECAB1-Positive Neurons in Normal and Epileptic Brain-Expression Changes in Temporal Lobe Epilepsy and Modulation by Levetiracetam and Brivaracetam.International journal of molecular sciences · 2025Article
- Investigating Sequence Variations inClinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025Article
- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.Scientific reports · 2025Article
- Prevalence and heritability of parental-reported speech and/or language difficulties in a Swedish population-based twin sample.JCPP advances · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Elephants as an animal model for self-domestication.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder.Molecular autism · 2023Article
- The Genetic and Molecular Basis of Developmental Language Disorder: A Review.Children (Basel, Switzerland) · 2022Review
- Autism-Risk GeneFrontiers in molecular neuroscience · 2022Article
- Speech and language deficits are central to SETBP1 haploinsufficiency disorder.European journal of human genetics : EJHG · 2021Article
- Association between genes regulating neural pathways for quantitative traits of speech and language disorders.NPJ genomic medicine · 2021Article
- NECAB1 and NECAB2 are Prevalent Calcium-Binding Proteins of CB1/CCK-Positive GABAergic Interneurons.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- NT5DC2 affects the phosphorylation of tyrosine hydroxylase regulating its catalytic activity.Journal of neural transmission (Vienna, Austria : 1996) · 2020Article
- Automated Phenotyping Tool for Identifying Developmental Language Disorder Cases in Health Systems Data (APT-DLD): A New Research Algorithm for Deployment in Large-Scale Electronic Health Record Systems.Journal of speech, language, and hearing research : JSLHR · 2020Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
BACKGROUND AND
objectiveDevelopmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the genetic underpinnings of DLD, we performed genome-wide association and whole exome sequencing studies in a geographically isolated population with a substantially elevated prevalence of the disorder (ie, the AZ sample).
methodsDNA samples were collected from 359 individuals for the genome-wide association study and from 12 severely affected individuals for whole exome sequencing. Multifaceted phenotypes, representing major domains of expressive language functioning, were derived from collected speech samples.
resultsGene-based analyses revealed a significant association between SETBP1 and complexity of linguistic output (P = 5.47 × 10(-7)). The analysis of exome variants revealed coding sequence variants in 14 genes, most of which play a role in neural development. Targeted enrichment analysis implicated myocyte enhancer factor-2 (MEF2)-regulated genes in DLD in the AZ population. The main findings were successfully replicated in an independent cohort of children at risk for related disorders (n = 372).
conclusionsMEF2-regulated pathways were identified as potential candidate pathways in the etiology of DLD. Several genes (including the candidate SETBP1 and other MEF2-related genes) seem to jointly influence certain, but not all, facets of the DLD phenotype. Even when genetic and environmental diversity is reduced, DLD is best conceptualized as etiologically complex. Future research should establish whether the signals detected in the AZ population can be replicated in other samples and languages and provide further characterization of the identified pathway.
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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.