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.

AC, FMS, DF and IP drafted the manuscript. DF performed wet-lab (sample processing steps) and WES data analysis. MP performed array-CGH. AC and IP collected and analyzed clinical data. DL performed genetic counseling. AC, FMS, DF, SG and EA critically reviewed the manuscript. AC and DF designed the study. FMS reviewed the study design. All authors have read and approved the final version of the manuscript.

#Present address: UOC Medical Genetics, S. Camillo Hospital, Rome, Italy.

Received: 07 November 2022

Accepted: 14 June 2023

Article published online:
07 August 2023

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