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Pediatric Reports
Volume 7
Issue 2
10.4081/pr.2015.5955
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Case Report

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

by
Ana Ratola
1,*,
Helena Moreira Silva
1,
Ana Guedes
1,
Céu Mota
1,
Ana Cristina Braga
1,
Dulce Oliveira
1,
Artur Alegria
1,
Carmen Carvalho
1,
Sílvia Álvares
2 and
Elisa Proença
1
1
Neonatal Intensive Care Unit, Centro Materno- Infantil do Norte, Centro Hospitalar do Porto, Portugal
2
Pediatric Cardiology Department, Centro Materno-Infantil do Norte, Centro Hospitalar do Porto, Portugal
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2015, 7(2), 5955; https://doi.org/10.4081/pr.2015.5955
Submission received: 17 April 2015 / Revised: 5 May 2015 / Accepted: 12 May 2015 / Published: 24 June 2015

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.
Keywords: RASopathies; RAF1 gene; prematurity; hypertrophic cardiomyopathy; death RASopathies; RAF1 gene; prematurity; hypertrophic cardiomyopathy; death

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MDPI and ACS Style

Ratola, A.; Silva, H.M.; Guedes, A.; Mota, C.; Braga, A.C.; Oliveira, D.; Alegria, A.; Carvalho, C.; Álvares, S.; Proença, E. A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. Pediatr. Rep. 2015, 7, 5955. https://doi.org/10.4081/pr.2015.5955

AMA Style

Ratola A, Silva HM, Guedes A, Mota C, Braga AC, Oliveira D, Alegria A, Carvalho C, Álvares S, Proença E. A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. Pediatric Reports. 2015; 7(2):5955. https://doi.org/10.4081/pr.2015.5955

Chicago/Turabian Style

Ratola, Ana, Helena Moreira Silva, Ana Guedes, Céu Mota, Ana Cristina Braga, Dulce Oliveira, Artur Alegria, Carmen Carvalho, Sílvia Álvares, and Elisa Proença. 2015. "A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant" Pediatric Reports 7, no. 2: 5955. https://doi.org/10.4081/pr.2015.5955

APA Style

Ratola, A., Silva, H. M., Guedes, A., Mota, C., Braga, A. C., Oliveira, D., Alegria, A., Carvalho, C., Álvares, S., & Proença, E. (2015). A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. Pediatric Reports, 7(2), 5955. https://doi.org/10.4081/pr.2015.5955

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