학술논문
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Document Type
Article
Author
Source
Subject
*MOVEMENT disorders
*SPEECH disorders
*NEUROLOGICAL disorders
*GENETIC mutation
*ETIOLOGY of diseases
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Language
ISSN
0174-304X
Abstract
Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment. Whole exome sequencing in our case revealed a de novo and splicing mutation in the CSMD1 gene. [ABSTRACT FROM AUTHOR]