A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant

Area of Science:

• Genetics
• Pediatrics
• Cardiology

Background:

• Noonan syndrome is a common genetic disorder often linked with congenital heart defects.
• While many individuals have a normal life expectancy, severe cases can be fatal.

Observation:

• A preterm infant with Noonan syndrome presented with hypertrophic cardiomyopathy.
• The infant developed severe acute respiratory distress syndrome secondary to Adenovirus pneumonia.

Findings:

• A novel heterozygous mutation, c.782C>G (p.Pro261Arg), was identified in the RAF1 gene.
• This specific mutation has not been previously documented in the literature.

Implications:

• The clinical course and genotype/phenotype correlation of this novel RAF1 mutation remain unknown.
• This case underscores the potential for severe, fatal outcomes in Noonan syndrome, even with novel genetic variations.