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Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

PURPOSE: The 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. METHODS: A 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. RESULTS: A 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. CONCLUSION: Findings support the likelihood of heterogeneous genomic pathways associated with childhood apraxia of speech.

Pubmed ID: 22766611

Authors

  • Laffin JJ
  • Raca G
  • Jackson CA
  • Strand EA
  • Jakielski KJ
  • Shriberg LD

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

Publication Data

November 8, 2012

Associated Grants

  • Agency: NIDCD NIH HHS, Id: DC000496
  • Agency: NICHD NIH HHS, Id: HD03352
  • Agency: NICHD NIH HHS, Id: P30 HD003352
  • Agency: NIDCD NIH HHS, Id: R01 DC000496

Mesh Terms

  • Adolescent
  • Apraxias
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations
  • Female
  • Forkhead Transcription Factors
  • Genetic Predisposition to Disease
  • Genome, Human
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Speech Disorders