Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech

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 wit...

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Bibliographic Details
Published inNeuropediatrics Vol. 54; no. 6; p. 407
Main Authors Formicola, Daniela, Podda, Irina, Pantaleo, Marilena, Andreucci, Elena, Lopergolo, Diego, Giglio, Sabrina, Santorelli, Filippo Maria, Chilosi, Anna
Format Journal Article
LanguageEnglish
Published Germany 01.12.2023
Subjects
Apraxias - genetics
Child
Exome Sequencing
Humans
Male
Membrane Proteins - genetics
Mutation - genetics
Speech
Speech Disorders - genetics
Tumor Suppressor Proteins - genetics
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Summary: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 and splicing mutation in the gene.
ISSN:1439-1899
DOI:10.1055/s-0043-1771033