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

ABSTRACT: 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.

SUBMITTER: Ratola A

PROVIDER: S-EPMC4508625 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature

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

Ratola Ana A Silva Helena Moreira HM Guedes Ana A Mota Céu C Braga Ana Cristina AC Oliveira Dulce D Alegria Artur A Carvalho Carmen C Álvares Sílvia S Proença Elisa E

Pediatric reports 20150501 2

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 previo ...[more]

PMID: 26266034

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