Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing

This study investigated the genetic causes of atypical cerebral palsy (CP) through chromosomal microarray (CMA) and exome sequencing (ES) in a cohort of 10 Korean patients to identify variants and expand the spectrum of mutations associated with atypical cerebral palsy. Whole ES and/or genome sequencing (GS) after routine karyotyping and CMA was performed to identify causative variants and expand the spectrum of mutations associated with atypical CP. In cases of atypical CP, scoliosis and/or kyphosis, ranging from mild to severe, were present in all patients. Epilepsy was a comorbidity in seven patients (70%), and intellectual disability (ID) was observed in varying degrees. This study identified three copy number variations (CNVs), including 15q11.2 microdeletion (<i>n</i> = 1), 17p11.2 duplication (<i>n</i> = 1), and 12p13.33p11.23 duplication/18p11.32 microdeletion (<i>n</i> = 1), and six likely pathogenic variants (LPVs) or pathogenic variants (PVs) detected in the <i>SLC2A1</i>, <i>PLAA</i>, <i>CDC42BPB</i>, <i>CACNA1D</i>, <i>ALG12</i>, and <i>SACS</i> genes (<i>n</i> = 6). These findings emphasize the significance of incorporating genetic testing into the diagnostic process for atypical CP to improve our understanding of its molecular basis and inform personalized treatment strategies. To further advance this research, future studies should focus on exploring genotype-phenotype correlations, assessing the functional impact of identified variants, and increasing the sample size to validate the observed patterns.