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Frontiers Media S.A.
Frontiers in Genetics
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Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.
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Centanni, Tracy M.; Green, Jordan R.; Iuzzini-Seigel, Jenya; Bartlett, Christopher W,; and Hogan, Tiffany P., "Evidence for the Multiple Hits Genetic Theory for Inherited Language Impairment: A Case Study" (2015). Speech Pathology and Audiology Faculty Research and Publications. 31.
Published version. Frontiers in Genetics, Vol. 6 (August 2015): 272. DOI. © 2015 Centanni, Green, Iuzzini-Seigel, Bartlett and Hogan. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.