Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach.

Genomic abnormalities were identified in 10.3% of 107 Tunisian patients with corpus callosum abnormalities, highlighting the role of pathogenic CNVs in these disorders.

• Why it matters: Understanding the genetic basis of CCA is crucial for accurate diagnosis and management, especially in underrepresented populations where data are limited.
• What they did: A stepwise diagnostic approach was used, including karyotyping, FISH, MLPA, array-CGH, and WES, to characterize clinical and genomic features over 15 years.
• The result: Findings show that pathogenic CNVs significantly contribute to CCA, supporting combined cytogenetic and sequencing strategies, though rare sequence variants require further validation.