Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches - PubMed
6 hours ago
- #Neurodevelopmental Disorders
- #Cerebral Palsy
- #Genomics
- Cerebral Palsy (CP) is characterized by permanent, non-degenerative motor function deficits with increasing evidence of genetic contributions.
- The study aimed to improve diagnostic accuracy and elucidate the genetic architecture of CP and CP-like phenotypes through systematic genomic analyses.
- Pathogenic or likely pathogenic variants were identified in 36.4% of patients, while variants of uncertain significance (VUS) were detected in 25.8%.
- Identified variants involved genes such as SPAST, KIF1A, PLA2G6, CTNNB1, L1CAM, and SYNGAP1.
- The findings support the significant contribution of genetic factors to CP etiology and emphasize the importance of integrating genomic testing into clinical evaluation.
- The systematic use of exome and genome sequencing improves diagnostic yield and enables genotype-informed classification, aiding targeted management and genetic counseling.