A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study
Identifieur interne : 006126 ( Ncbi/Checkpoint ); précédent : 006125; suivant : 006127A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study
Auteurs : Gregor Nosan [Slovénie] ; Sara Bertok [Slovénie] ; Samo Vesel [Slovénie] ; Helger G. Yntema [Pays-Bas] ; Darja Paro-Panjan [Slovénie]Source :
- Croatian Medical Journal [ 0353-9504 ] ; 2013.
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
Url:
DOI: 10.3325/cmj.2013.54.574
PubMed: 24382853
PubMed Central: 3893993
Affiliations:
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the <italic>KRAS</italic>
gene: case study</title>
<author><name sortKey="Nosan, Gregor" sort="Nosan, Gregor" uniqKey="Nosan G" first="Gregor" last="Nosan">Gregor Nosan</name>
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<author><name sortKey="Bertok, Sara" sort="Bertok, Sara" uniqKey="Bertok S" first="Sara" last="Bertok">Sara Bertok</name>
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<author><name sortKey="Paro Panjan, Darja" sort="Paro Panjan, Darja" uniqKey="Paro Panjan D" first="Darja" last="Paro-Panjan">Darja Paro-Panjan</name>
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<series><title level="j">Croatian Medical Journal</title>
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<front><div type="abstract" xml:lang="en"><p>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 <italic>KRAS</italic>
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.</p>
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<author><name sortKey="Allanson, Je" uniqKey="Allanson J">JE Allanson</name>
</author>
<author><name sortKey="Dahlgren, J" uniqKey="Dahlgren J">J Dahlgren</name>
</author>
<author><name sortKey="Gelb, Bd" uniqKey="Gelb B">BD Gelb</name>
</author>
<author><name sortKey="Hall, B" uniqKey="Hall B">B Hall</name>
</author>
<author><name sortKey="Pierpont, Me" uniqKey="Pierpont M">ME Pierpont</name>
</author>
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</author>
<author><name sortKey="Sharland, M" uniqKey="Sharland M">M Sharland</name>
</author>
<author><name sortKey="Shinebourne, E" uniqKey="Shinebourne E">E Shinebourne</name>
</author>
<author><name sortKey="Smith, G" uniqKey="Smith G">G Smith</name>
</author>
<author><name sortKey="Patton, M" uniqKey="Patton M">M Patton</name>
</author>
<author><name sortKey="Mckenna, W" uniqKey="Mckenna W">W McKenna</name>
</author>
</analytic>
</biblStruct>
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</author>
<author><name sortKey="Kalidas, K" uniqKey="Kalidas K">K Kalidas</name>
</author>
<author><name sortKey="Crosby, Ah" uniqKey="Crosby A">AH Crosby</name>
</author>
<author><name sortKey="Jeffery, S" uniqKey="Jeffery S">S Jeffery</name>
</author>
<author><name sortKey="Patton, Ma" uniqKey="Patton M">MA Patton</name>
</author>
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</author>
<author><name sortKey="Shannon, K" uniqKey="Shannon K">K Shannon</name>
</author>
<author><name sortKey="Bollag, G" uniqKey="Bollag G">G Bollag</name>
</author>
</analytic>
</biblStruct>
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</author>
<author><name sortKey="Kim, Jm" uniqKey="Kim J">JM Kim</name>
</author>
<author><name sortKey="Jin, Hy" uniqKey="Jin H">HY Jin</name>
</author>
<author><name sortKey="Kim, Gh" uniqKey="Kim G">GH Kim</name>
</author>
<author><name sortKey="Choi, Jh" uniqKey="Choi J">JH Choi</name>
</author>
<author><name sortKey="Yoo, Hw" uniqKey="Yoo H">HW Yoo</name>
</author>
</analytic>
</biblStruct>
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</author>
<author><name sortKey="Zampino, G" uniqKey="Zampino G">G Zampino</name>
</author>
<author><name sortKey="Kriek, M" uniqKey="Kriek M">M Kriek</name>
</author>
<author><name sortKey="Kant, Sg" uniqKey="Kant S">SG Kant</name>
</author>
<author><name sortKey="Leoni, C" uniqKey="Leoni C">C Leoni</name>
</author>
<author><name sortKey="Pantaleoni, F" uniqKey="Pantaleoni F">F Pantaleoni</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schubbert, S" uniqKey="Schubbert S">S Schubbert</name>
</author>
<author><name sortKey="Zenker, M" uniqKey="Zenker M">M Zenker</name>
</author>
<author><name sortKey="Rowe, Sl" uniqKey="Rowe S">SL Rowe</name>
</author>
<author><name sortKey="Boll, S" uniqKey="Boll S">S Böll</name>
</author>
<author><name sortKey="Klein, C" uniqKey="Klein C">C Klein</name>
</author>
<author><name sortKey="Bollag, G" uniqKey="Bollag G">G Bollag</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Carta, C" uniqKey="Carta C">C Carta</name>
</author>
<author><name sortKey="Pantaleoni, F" uniqKey="Pantaleoni F">F Pantaleoni</name>
</author>
<author><name sortKey="Bocchinfuso, G" uniqKey="Bocchinfuso G">G Bocchinfuso</name>
</author>
<author><name sortKey="Stella, L" uniqKey="Stella L">L Stella</name>
</author>
<author><name sortKey="Vasta, I" uniqKey="Vasta I">I Vasta</name>
</author>
<author><name sortKey="Sarkozy, A" uniqKey="Sarkozy A">A Sarkozy</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gremer, L" uniqKey="Gremer L">L Gremer</name>
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<author><name sortKey="Merbitz Zahradnik, T" uniqKey="Merbitz Zahradnik T">T Merbitz-Zahradnik</name>
</author>
<author><name sortKey="Dvorsky, R" uniqKey="Dvorsky R">R Dvorsky</name>
</author>
<author><name sortKey="Cirstea, Ic" uniqKey="Cirstea I">IC Cirstea</name>
</author>
<author><name sortKey="Kratz, Cp" uniqKey="Kratz C">CP Kratz</name>
</author>
<author><name sortKey="Zenker, M" uniqKey="Zenker M">M Zenker</name>
</author>
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</author>
<author><name sortKey="Bocchinfuso, G" uniqKey="Bocchinfuso G">G Bocchinfuso</name>
</author>
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</author>
<author><name sortKey="Vasta, I" uniqKey="Vasta I">I Vasta</name>
</author>
<author><name sortKey="Sarkozy, A" uniqKey="Sarkozy A">A Sarkozy</name>
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<author><name sortKey="Komoike, Y" uniqKey="Komoike Y">Y Komoike</name>
</author>
<author><name sortKey="Nishizawa, T" uniqKey="Nishizawa T">T Nishizawa</name>
</author>
<author><name sortKey="Inai, K" uniqKey="Inai K">K Inai</name>
</author>
<author><name sortKey="Furutani, M" uniqKey="Furutani M">M Furutani</name>
</author>
<author><name sortKey="Higashinakagawa, T" uniqKey="Higashinakagawa T">T Higashinakagawa</name>
</author>
</analytic>
</biblStruct>
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</author>
<author><name sortKey="Aoki, Y" uniqKey="Aoki Y">Y Aoki</name>
</author>
<author><name sortKey="Narumi, Y" uniqKey="Narumi Y">Y Narumi</name>
</author>
<author><name sortKey="Neri, G" uniqKey="Neri G">G Neri</name>
</author>
<author><name sortKey="Cave, H" uniqKey="Cave H">H Cavé</name>
</author>
<author><name sortKey="Verloes, A" uniqKey="Verloes A">A Verloes</name>
</author>
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