- Noonan syndrome as result of mutation p. S257L of gene RAF1 (clinical case)
Noonan syndrome as result of mutation p. S257L of gene RAF1 (clinical case)
Modern pediatrics. Ukraine. 2019.4(100):66-70; doi 10.15574/SP.2019.100.66
Dushar M. I., Akopyan H. R., Makukh G. V., Lukyanenko N. S., Gnateyko O. Z.
SI «Institute of Hereditary Pathology NAMS of Ukraine», Lviv, Ukraine
Danylo Halytsky Lviv National Medical University, Ukraine
For citation: Dushar MI, Akopyan HR, Makukh GV, Lukyanenko NS et al. (2019). Noonan syndrome as result of mutation p. S257L of gene RAF1 (clinical case). Modern pediatrics. Ukraine. 4(100): 66-70. doi 10.15574/SP.2019.100.66
Article received: Feb 01, 2019. Accepted for publication: Apr 25, 2019.
Noonan syndrome (NS) is a relatively common syndrome of multiple birth defects. The main symptoms are postnatal growth retardation, characterized by facial dysmorphy and a wide range of congenital heart defects. The most common congenital heart disease is pulmonary artery stenosis and hypertrophic cardiomyopathy.
Objektive: to diagnose a child with congenital heart disease, severe hypertrophic cardiomyopathy, pulmonary hypertension and stigmata of dysbryogenesis. RAF1 mutations cause 3–17% of Noonan syndrome cases. Noonan syndrome is one of a group of related conditions, collectively known as RASopathies. The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen — activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, as a result of mutation p.Ser257Leu in the gene RAF1.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee (LEC) of institution. The informed consent of the patient was obtained for conducting the studies.
No conflict of interest was declared by the authors
Key words: Noonan syndrome, hypertrophic cardiomyopathy, RAF1 gene.
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