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Neuropediatrics 2023; 54(06): 407-411
DOI: 10.1055/s-0043-1771033
Short Communication

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

Daniela Formicola   *
1   Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy
,
Irina Podda
2   Parole al Centro Studio di Logopedia, Genoa, Italy
,
Marilena Pantaleo
3   Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy
,
Elena Andreucci 
3   Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy
,
Diego Lopergolo
1   Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy
,
Sabrina Giglio
4   Department of Medical Sciences and Public Health, Medical Genetics Unit, University of Cagliari, Cagliari, Italy
,
Filippo Maria Santorelli
1   Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy
5   Department of Developmental Neuroscience, IRCCS “Stella Maris Foundation” Scientific Institute, Pisa, Italy
,
Anna Chilosi
5   Department of Developmental Neuroscience, IRCCS “Stella Maris Foundation” Scientific Institute, Pisa, Italy
› Author Affiliations Funding This work was supported in part by funding from the Italian Ministry of Health (RF2016-02361560 to A.C.; RC 5 × 1000 to FMS and AC).
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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.

Keywords

childhood apraxia of speech - language impairment - CSMD1 - array-CGH - WES

Author Contributions

A.C., F.M.S., D.F. and I.P. drafted the manuscript. D.F. performed wet-lab (sample processing steps) and W.E.S. data analysis. M.P. performed array-CGH. A.C. and I.P. collected and analyzed clinical data. D.L. performed genetic counseling. A.C., F.M.S., D.F., S.G. and E.A. critically reviewed the manuscript. A.C. and D.F. designed the study. F.M.S. 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.




Publication History

Received: 07 November 2022

Accepted: 14 June 2023

Article published online:
07 August 2023

© 2023. Thieme. All rights reserved.

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