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We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CAS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>As part of a larger study of children and youth with motor speech sound disorders, 32 participants were classified as positive for CAS on the basis of a behavioral classification marker using auditory-perceptual and acoustic methods that quantify the competence, precision and stability of a speaker\u2019s speech, prosody and voice. WES of 10 randomly selected participants was completed using the Illumina Genome Analyzer IIx Sequencing System. Image analysis, base calling, demultiplexing, read mapping, and variant calling were performed using Illumina software. Software developed in-house was used for variant annotation, prioritization and interpretation to identify those variants likely to be deleterious to neurodevelopmental substrates of speech-language development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among potentially deleterious variants, clinically reportable findings of interest occurred on a total of five chromosomes (Chr3, Chr6, Chr7, Chr9 and Chr17), which included six genes either strongly associated with CAS (<jats:italic>FOXP1<\/jats:italic>and<jats:italic>CNTNAP2<\/jats:italic>) or associated with disorders with phenotypes overlapping CAS (<jats:italic>ATP13A4<\/jats:italic>,<jats:italic>CNTNAP1<\/jats:italic>,<jats:italic>KIAA0319<\/jats:italic>and<jats:italic>SETX<\/jats:italic>). A total of 8 (80%) of the 10 participants had clinically reportable variants in one or two of the six genes, with variants in<jats:italic>ATP13A4<\/jats:italic>,<jats:italic>KIAA0319<\/jats:italic>and<jats:italic>CNTNAP2<\/jats:italic>being the most prevalent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Similar to the results reported in emerging WES studies of other complex neurodevelopmental disorders, our findings from this first WES study of CAS are interpreted as support for heterogeneous genetic origins of this pediatric motor speech disorder with multiple genes, pathways and complex interactions. We also submit that our findings illustrate the potential use of WES for both gene identification and case-by-case clinical diagnostics in pediatric motor speech disorders.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1866-1955-5-29","type":"journal-article","created":{"date-parts":[[2013,10,2]],"date-time":"2013-10-02T07:02:16Z","timestamp":1380697336000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech"],"prefix":"10.1186","volume":"5","author":[{"given":"Elizabeth A","family":"Worthey","sequence":"first","affiliation":[]},{"given":"Gordana","family":"Raca","sequence":"additional","affiliation":[]},{"given":"Jennifer J","family":"Laffin","sequence":"additional","affiliation":[]},{"given":"Brandon M","family":"Wilk","sequence":"additional","affiliation":[]},{"given":"Jeremy M","family":"Harris","sequence":"additional","affiliation":[]},{"given":"Kathy J","family":"Jakielski","sequence":"additional","affiliation":[]},{"given":"David P","family":"Dimmock","sequence":"additional","affiliation":[]},{"given":"Edythe A","family":"Strand","sequence":"additional","affiliation":[]},{"given":"Lawrence D","family":"Shriberg","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2013,10,2]]},"reference":[{"key":"56_CR1","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1038\/nrn3271","volume":"13","author":"J Bras","year":"2012","unstructured":"Bras J, Guerreiro R, Hardy J: Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. 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