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

Genomic abnormalities are identified in 10.3% of Tunisian patients with corpus callosum abnormalities, with pathogenic CNVs detected in 18.5% of tested cases.

• Why it matters: Understanding the genetic basis of CCA is crucial for accurate diagnosis and management, especially in underrepresented populations where genotype-phenotype links are less clear.
• What they did: Researchers examined 107 Tunisian patients using a stepwise genomic approach, including karyotyping, FISH, MLPA, array-CGH, and WES, to identify chromosomal and sequence variants.
• The result: Pathogenic CNVs involving neurodevelopmental disorder regions were found in 10.3% of patients, highlighting the importance of cytogenetic testing, while rare sequence variants did not meet criteria for pathogenicity, underscoring challenges in interpreting sequence data.