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 ou...

Full description

Saved in:
Bibliographic Details
Published inPediatric reports Vol. 7; no. 2; p. 5955
Main Authors Ratola, Ana, Silva, Helena Moreira, Guedes, Ana, Mota, Céu, Braga, Ana Cristina, Oliveira, Dulce, Alegria, Artur, Carvalho, Carmen, Álvares, Sílvia, Proença, Elisa
Format Report
LanguageEnglish
Published 25.05.2015
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
content type line 59
SourceType-Reports-1
ObjectType-Report-1
ISSN:2036-749X
DOI:10.4081/pr.2015.5955