A novel KDM5C variant corrects a previously erroneous diagnosis

Area of Science:

• Genetics
• Neurology
• Developmental Biology

Background:

• A family presented with a history of intellectual disability, developmental delay, behavioral issues, and dysmorphic features in three brothers.
• Initial genetic screening identified a variant in the FGD1 gene, suspected to cause the phenotype.

Observation:

• The initially identified FGD1 variant was later found to be benign through advanced genetic analysis.
• Episign analysis was employed to re-evaluate the genetic cause of the observed phenotype.

Findings:

• A novel pathogenic variant in the KDM5C gene was discovered as the true cause of the brothers' condition.
• This finding corrects a previous diagnostic error and expands the known KDM5C phenotype.

Implications:

• This case underscores the necessity of utilizing advanced genetic technologies for accurate diagnosis.
• It emphasizes the importance of re-evaluating past diagnoses as scientific understanding and methodologies evolve.