Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2013.54.574
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study
Gregor Nosan
; Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Sara Bertok
; Department of Endocrinology, Diabetes and Metabolic Diseases Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Samo Vesel
; Cardiology Unit, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Helger G. Yntema
; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
Darja Paro-Panjan
; Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia
Sažetak
Abstract 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.
Ključne riječi
Hrčak ID:
117026
URI
Datum izdavanja:
15.12.2013.
Posjeta: 1.081 *