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

Jennifer J S Laffin, Gordana Raca, Craig A. Jackson, Edythe A. Strand, Kathy J. Jakielski, Lawrence D. Shriberg

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

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 speechlanguage 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 speechlanguage 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.

Original languageEnglish (US)
Pages (from-to)928-936
Number of pages9
JournalGenetics in Medicine
Volume14
Issue number11
DOIs
StatePublished - Nov 2012

Fingerprint

Apraxias
Comparative Genomic Hybridization
Genes
Speech Disorders
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 13
Mutation
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 2
Gene Dosage
Pedigree
Research

Keywords

  • 16p11.2
  • apraxia
  • dyspraxia
  • FOXP2
  • speech disorder

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Laffin, J. J. S., Raca, G., Jackson, C. A., Strand, E. A., Jakielski, K. J., & Shriberg, L. D. (2012). Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genetics in Medicine, 14(11), 928-936. https://doi.org/10.1038/gim.2012.72

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. / Laffin, Jennifer J S; Raca, Gordana; Jackson, Craig A.; Strand, Edythe A.; Jakielski, Kathy J.; Shriberg, Lawrence D.

In: Genetics in Medicine, Vol. 14, No. 11, 11.2012, p. 928-936.

Research output: Contribution to journalArticle

Laffin, JJS, Raca, G, Jackson, CA, Strand, EA, Jakielski, KJ & Shriberg, LD 2012, 'Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization', Genetics in Medicine, vol. 14, no. 11, pp. 928-936. https://doi.org/10.1038/gim.2012.72
Laffin, Jennifer J S ; Raca, Gordana ; Jackson, Craig A. ; Strand, Edythe A. ; Jakielski, Kathy J. ; Shriberg, Lawrence D. / Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. In: Genetics in Medicine. 2012 ; Vol. 14, No. 11. pp. 928-936.
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