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

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Atypical cerebral palsy (CP) presents complex etiological challenges.
• Understanding genetic underpinnings is crucial for diagnosis and management.

Purpose of the Study:

• To investigate genetic causes of atypical CP in Korean patients.
• To identify novel variants and expand the mutation spectrum associated with atypical CP.

Main Methods:

• Utilized chromosomal microarray (CMA) and whole exome sequencing (ES) / genome sequencing (GS).
• Analyzed genetic data from a cohort of 10 Korean patients with atypical CP.

Main Results:

• Identified three copy number variations (CNVs): 15q11.2 microdeletion, 17p11.2 duplication, and a combined duplication/microdeletion.
• Detected six likely pathogenic or pathogenic variants in genes including SLC2A1, PLAA, CDC42BPB, CACNA1D, ALG12, and SACS.
• Observed high comorbidity of scoliosis/kyphosis (100%), epilepsy (70%), and intellectual disability in the cohort.

Conclusions:

• Genetic testing is vital for diagnosing atypical CP and understanding its molecular basis.
• Findings support personalized treatment strategies for patients with atypical CP.
• Future research should focus on genotype-phenotype correlations and functional impact assessments.