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

Ratola A, Silva HM, Guedes A, Mota C, Braga AC, Oliveira D, Alegria A, Carvalho C, Álvares S, Proença E - Pediatr Rep (2015)

Bottom Line: If the defect is not severe, life expectancy is normal.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.

View Article: PubMed Central - PubMed

Affiliation: Neonatal Intensive Care Unit , Portugal.

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.

No MeSH data available.


Related in: MedlinePlus

Cerebral magnetic resonance images: poor gyration, with the presence of shallow grooves especially in the frontal regions.
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fig002: Cerebral magnetic resonance images: poor gyration, with the presence of shallow grooves especially in the frontal regions.

Mentions: A molecular study for RASopathies, testing for specific mutations in PTPN11, BRAF, SOS1, HRAS, KRAS, RAF1, MAP2K1, and MAP2K2, revealed a novel RAF1 gene mutation: c.782C>G (p.Pro261Arg) in heterozygosity, forecasting a diagnosis of probable Noonan syndrome. The genetic parents’ study was negative. On day 31, a cerebral magnetic resonance showed intraventricular and parenchymal venous infarction and relatively poor gyration, with the presence of shallow grooves especially in the frontal regions (Figure 2).


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

Ratola A, Silva HM, Guedes A, Mota C, Braga AC, Oliveira D, Alegria A, Carvalho C, Álvares S, Proença E - Pediatr Rep (2015)

Cerebral magnetic resonance images: poor gyration, with the presence of shallow grooves especially in the frontal regions.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4508625&req=5

fig002: Cerebral magnetic resonance images: poor gyration, with the presence of shallow grooves especially in the frontal regions.
Mentions: A molecular study for RASopathies, testing for specific mutations in PTPN11, BRAF, SOS1, HRAS, KRAS, RAF1, MAP2K1, and MAP2K2, revealed a novel RAF1 gene mutation: c.782C>G (p.Pro261Arg) in heterozygosity, forecasting a diagnosis of probable Noonan syndrome. The genetic parents’ study was negative. On day 31, a cerebral magnetic resonance showed intraventricular and parenchymal venous infarction and relatively poor gyration, with the presence of shallow grooves especially in the frontal regions (Figure 2).

Bottom Line: If the defect is not severe, life expectancy is normal.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.

View Article: PubMed Central - PubMed

Affiliation: Neonatal Intensive Care Unit , Portugal.

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.

No MeSH data available.


Related in: MedlinePlus