Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience DOI Creative Commons
Daniela Formicola, Irina Podda, Elia Dirupo

et al.

Frontiers in Neuroscience, Journal Year: 2024, Volume and Issue: 18

Published: Sept. 24, 2024

Background Childhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor disorder. The advent whole exome sequencing (WES) and genome techniques has led to increased identification pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both identify new gene associated with CAS, confirm the disease-related role genes already reported by others. We also set out refine clinical neurodevelopmental characterization affected children, aim identifying specific, gene-related phenotypes. Methods single-center study aiming explore genetic etiology cohort 69 WES was performed families 34 children found have no copy number variants. Each these had only one child CAS. Results High-confidence (HC) were identified 7/34 probands, two whom they KAT6A CREBBP , thus confirming involvement impairment. other probands carried low-confidence (LC) genes, 20 occurred not previously UBA6, ZFHX4 be more enriched compared control individuals. Our results showed that most HC are involved epigenetic mechanisms expressed brain regions linked language acquisition processes. Conclusion findings relatively high diagnostic yield patients.

Language: Английский

Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome DOI
Rowena Ng, Allison Kalinousky, Jacqueline Harris

et al.

Journal of Autism and Developmental Disorders, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 17, 2024

Language: Английский

Citations

0
Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience DOI Creative Commons
Daniela Formicola, Irina Podda, Elia Dirupo

et al.

Frontiers in Neuroscience, Journal Year: 2024, Volume and Issue: 18

Published: Sept. 24, 2024

Background Childhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor disorder. The advent whole exome sequencing (WES) and genome techniques has led to increased identification pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both identify new gene associated with CAS, confirm the disease-related role genes already reported by others. We also set out refine clinical neurodevelopmental characterization affected children, aim identifying specific, gene-related phenotypes. Methods single-center study aiming explore genetic etiology cohort 69 WES was performed families 34 children found have no copy number variants. Each these had only one child CAS. Results High-confidence (HC) were identified 7/34 probands, two whom they KAT6A CREBBP , thus confirming involvement impairment. other probands carried low-confidence (LC) genes, 20 occurred not previously UBA6, ZFHX4 be more enriched compared control individuals. Our results showed that most HC are involved epigenetic mechanisms expressed brain regions linked language acquisition processes. Conclusion findings relatively high diagnostic yield patients.

Language: Английский

Citations

0