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.

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

Giglio, Sabrina
Membro del Collaboration Group
;
2023-01-01

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.
2023
Childhood apraxia of speech; complex neurological condition; Whole exome sequencing; CSMD1 gene
File in questo prodotto:
File Dimensione Formato  
Evidence for - post print text.pdf

Open Access dal 08/08/2024

Tipologia: versione post-print
Dimensione 1.05 MB
Formato Adobe PDF
1.05 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/372183
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact