A Novel Pathogenic CHD7 Splice-Site Variant in a Neonate with CHARGE Syndrome Identified by Blood RNA Analysis

Key Points

• To identify a novel pathogenic splice-site variant in the CHD7 gene associated with CHARGE syndrome using blood RNA analysis.
• Conducted blood RNA analysis to identify genetic variants in a neonate.
• Focused on splice-site regions of the CHD7 gene.
• Employed sequencing techniques to confirm variant pathology.
• Identified a novel splice-site variant in the CHD7 gene.
• Association found between the variant and clinical features of CHARGE syndrome.
• Study highlights the role of RNA analysis in detecting genetic disorders.