Avtor/Urednik		Nosan, Gregor; Bertok, Sara; Vesel, Samo; Yntema, Helger G.; Paro Panjan, Darja
Naslov		A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study
Tip		članek
Vol. in št.		Letnik 54, št. 6
Leto izdaje		2013
Obseg		str. 574-578
ISSN		0353-9504 - Croatian medical journal
Jezik		eng
Abstrakt		Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation in the KRAS gene. This heterozygous unclassified missense variant in exon 3: c.179G>T (p. Gly60Val) might be associated with a lethal form of Noonan syndrome. The malignant clinical course of the disease and the lethal outcome in an infant only a few months old might be connected to RAS-mitogen-activated protein kinase pathway hyperactivation, consequently promoting cell growth and proliferation, leading to rapidly progressive hypertrophic cardiomyopathy. Further biochemical and functional studies are needed to confirm this hypothesis.
Proste vsebinske oznake		pediatrija Noonan sindrom genetske mutacije KRAS