A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.
Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.
Neonatal Intensive Care Unit , Portugal.
Ana
A
Ratola
Neonatal Intensive Care Unit , Portugal.
Helena Moreira
HM
Silva
Neonatal Intensive Care Unit , Portugal.
Ana
A
Guedes
Neonatal Intensive Care Unit , Portugal.
Céu
C
Mota
Neonatal Intensive Care Unit , Portugal.
Ana Cristina
AC
Braga
Neonatal Intensive Care Unit , Portugal.
Dulce
D
Oliveira
Neonatal Intensive Care Unit , Portugal.
Artur
A
Alegria
Neonatal Intensive Care Unit , Portugal.
Carmen
C
Carvalho
Pediatric Cardiology Department, Centro Materno-Infantil do Norte, Centro Hospitalar do Porto , Portugal.
Sílvia
S
Álvares
Neonatal Intensive Care Unit , Portugal.
Elisa
E
Proença
RAF1 gene; RASopathies; death; hypertrophic cardiomyopathy; prematurity