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

Daniela Formicola; Irina Podda; Marilena Pantaleo; Elena Andreucci; Diego Lopergolo; Sabrina Giglio; Filippo Maria Santorelli; Anna Chilosi

doi:10.1055/s-0043-1771033

Neuropediatrics, Table of Contents

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^*

¹Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy

,

Irina Podda

²Parole al Centro Studio di Logopedia, Genoa, Italy

,

Marilena Pantaleo

³Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy

,

Elena Andreucci

³Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy

,

Diego Lopergolo

¹Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy

,

Sabrina Giglio

⁴Department of Medical Sciences and Public Health, Medical Genetics Unit, University of Cagliari, Cagliari, Italy

,

Filippo Maria Santorelli

¹Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy

⁵Department of Developmental Neuroscience, IRCCS “Stella Maris Foundation” Scientific Institute, Pisa, Italy

,

Anna Chilosi

⁵Department of Developmental Neuroscience, IRCCS “Stella Maris Foundation” Scientific Institute, Pisa, Italy

› Author Affiliations

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

Full Text

References

References
1 ASHA. American Speech-Language-Hearing Association - ASHA, Childhood apraxia of speech [Technical Report]. 2007 ; Retrieved from https://www.asha.org/practice-portal/clinical-topics/childhood-apraxia-of-speech/
2 Shriberg LD, Potter NL, Strand EA. Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. J Speech Lang Hear Res 2011; 54 (02) 487-519
3 Chilosi AM, Podda I, Ricca I. et al. Differences and commonalities in children with childhood apraxia of speech and comorbid neurodevelopmental disorders: a multidimensional perspective. J Pers Med 2022; 12 (02) 313
4 Provenzano A, La Barbera A, Scagnet M. et al. Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. Hum Genet 2021; 140 (04) 625-647
5 Hayden DA, Square P. Verbal Motor Production Assessment for Children (VMPAC). San Antonio, TX: The Psychological Corporation; 1999
6 Chilosi AM. Cipriani. TCGB, Test di Comprensione Grammaticale per Bambini: D. Cerro Ed. Pisa; 2005
7 Chilosi AM, Pfanner L, Pecini C. et al. Which linguistic measures distinguish transient from persistent language problems in Late Talkers from 2 to 4 years? A study on Italian speaking children. Res Dev Disabil 2019; 89: 59-68
8 Cipriani P, Chilosi AM, Bottari P, Pfanner L. L'acquisizione della morfosintassi in italiano: fasi e processi. Padua: Unipress; 1993
9 Sanders SJ, Murtha MT, Gupta AR. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485 (7397) 237-241
10 Guo H, Wang T, Wu H. et al. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Mol Autism 2018; 9: 64
11 Kraus DM, Elliott GS, Chute H. et al. CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues. J Immunol 2006; 176 (07) 4419-4430
12 Steen VM, Nepal C, Ersland KM. et al. Neuropsychological deficits in mice depleted of the schizophrenia susceptibility gene CSMD1. PLoS One 2013; 8 (11) e79501
13 Koiliari E, Roussos P, Pasparakis E. et al. The CSMD1 genome-wide associated schizophrenia risk variant rs10503253 affects general cognitive ability and executive function in healthy males. Schizophr Res 2014; 154 (1-3): 42-47
14 Athanasiu L, Giddaluru S, Fernandes C. et al. A genetic association study of CSMD1 and CSMD2 with cognitive function. Brain Behav Immun 2017; 61: 209-216
15 Ermis Akyuz E, Bell SM. The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases. Genes (Basel) 2022; 13 (12) 2332
16 Bickart K, Napolioni V. et al. Genetic variation in CSMD1 affects amygdala connectivity and prosocial behavior. bioRxiv 2020
17 Glancy M, Barnicoat A, Vijeratnam R. et al. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet 2009; 17 (01) 37-43