Unknown

Dataset Information

0

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


ABSTRACT: 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.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.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.Findings support the likelihood of heterogeneous genomic pathways associated with childhood apraxia of speech.

SUBMITTER: Laffin JJ 

PROVIDER: S-EPMC3563158 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Laffin Jennifer J S JJ   Raca Gordana G   Jackson Craig A CA   Strand Edythe A EA   Jakielski Kathy J KJ   Shriberg Lawrence D LD  

Genetics in medicine : official journal of the American College of Medical Genetics 20120705 11


<h4>Purpose</h4>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.<h4>Methods</h4>A total of 24 participants who were suspected to have childhood apraxia  ...[more]

Similar Datasets

| S-ECPF-GEOD-22133 | biostudies-other
| S-EPMC4847873 | biostudies-literature
| S-EPMC3797874 | biostudies-literature
2010-06-24 | GSE22133 | GEO
| S-EPMC3488578 | biostudies-literature
| S-EPMC2917037 | biostudies-literature
| S-EPMC4130155 | biostudies-literature
| S-EPMC3549777 | biostudies-literature
2007-12-31 | GSE8628 | GEO
| S-EPMC2761934 | biostudies-literature