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.

URI

http://hdl.handle.net/10400.16/1978

Citação

Pediatr Rep. 2015;7(2):5955

Editora

PAGEpress

DOI

10.4081/pr.2015.5955

Coleções

CMIN_DIA_SCP_Artigos publicados em revistas indexadas na Medline/Pubmed

Métricas Alternativas

Ver registo completo