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...

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Bibliographic Details
Published in:Pediatric reports 2015-06, Vol.7 (2), p.5955-5955
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: Article
Language:English
Subjects:
Cardiomyopathy
Case Report
Case reports
death
Genotypes
Heterozygosity
hypertrophic cardiomyopathy
Life expectancy
Life span
Mutation
Noonan's syndrome
Phenotypes
Premature babies
prematurity
RAF1 gene
RASopathies
Respiratory distress syndrome
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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.
ISSN:2036-749X
2036-7503
2036-7503
DOI:10.4081/pr.2015.5955