ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. 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 30 papers.
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Who cites it
30 citing papers in PubMed, 60 citations in OpenAlex.
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective.Journal of personalized medicine · 2022Article
- A comprehensive in silico analysis of the deleterious nonsynonymous SNPs of human FOXP2 protein.PloS one · 2022Article
- Modelling speech motor programming and apraxia of speech in the DIVA/GODIVA neurocomputational framework.Aphasiology · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Differential Diagnosis of Apraxia of Speech in Children and Adults: A Scoping Review.Journal of speech, language, and hearing research : JSLHR · 2020Article
- Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.International journal of molecular sciences · 2019Article
- Estimates of the prevalence of speech and motor speech disorders in adolescents with Down syndrome.Clinical linguistics & phonetics · 2019Article
- Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.PLoS genetics · 2018Article
- Genetics of language and its implications on language interventions.Journal of genetics · 2018Review
- Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.European journal of human genetics : EJHG · 2018Article
- A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker.Journal of speech, language, and hearing research : JSLHR · 2017Review
- Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.PloS one · 2016Article
- Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.Journal of neurodevelopmental disorders · 2016Article
- Common Genetic Variants in FOXP2 Are Not Associated with Individual Differences in Language Development.PloS one · 2016Article
- New genes for focal epilepsies with speech and language disorders.Current neurology and neuroscience reports · 2015Review
- Insights into the genetic foundations of human communication.Neuropsychology review · 2015Review
- Evidence for the multiple hits genetic theory for inherited language impairment: a case study.Frontiers in genetics · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
purposeThe goal of this study was to identify new candidate genes and genomic copy-number variations associated with a rare, severe, and persistent speech disorder termed childhood apraxia of speech. Childhood apraxia of speech is the speech disorder segregating with a mutation in FOXP2 in a multigenerational London pedigree widely studied for its role in the development of speech-language in humans.
methodsA total of 24 participants who were suspected to have childhood apraxia of speech were assessed using a comprehensive protocol that samples speech in challenging contexts. All participants met clinical-research criteria for childhood apraxia of speech. Array comparative genomic hybridization analyses were completed using a customized 385K Nimblegen array (Roche Nimblegen, Madison, WI) with increased coverage of genes and regions previously associated with childhood apraxia of speech.
resultsA total of 16 copy-number variations with potential consequences for speech-language development were detected in 12 or half of the 24 participants. The copy-number variations occurred on 10 chromosomes, 3 of which had two to four candidate regions. Several participants were identified with copy-number variations in two to three regions. In addition, one participant had a heterozygous FOXP2 mutation and a copy-number variation on chromosome 2, and one participant had a 16p11.2 microdeletion and copy-number variations on chromosomes 13 and 14.
conclusionFindings support the likelihood of heterogeneous genomic pathways associated with childhood apraxia of speech.
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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.