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
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DOI: 10.3325/cmj.2013.54.574
PubMed: 24382853
PubMed Central: 3893993
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Yntema</name><affiliation wicri:level="3"><nlm:aff id="aff4">Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Paro Panjan, Darja" sort="Paro Panjan, Darja" uniqKey="Paro Panjan D" first="Darja" last="Paro-Panjan">Darja Paro-Panjan</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24382853</idno><idno type="pmc">3893993</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893993</idno><idno type="RBID">PMC:3893993</idno><idno type="doi">10.3325/cmj.2013.54.574</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002176</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002176</idno><idno type="wicri:Area/Pmc/Curation">002175</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002175</idno><idno type="wicri:Area/Pmc/Checkpoint">002548</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002548</idno><idno type="wicri:Area/Ncbi/Merge">006126</idno><idno type="wicri:Area/Ncbi/Curation">006126</idno><idno type="wicri:Area/Ncbi/Checkpoint">006126</idno></publicationStmt><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><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Bertok, Sara" sort="Bertok, Sara" uniqKey="Bertok S" first="Sara" last="Bertok">Sara Bertok</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Endocrinology, Diabetes and Metabolic Diseases, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Department of Endocrinology, Diabetes and Metabolic Diseases, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Vesel, Samo" sort="Vesel, Samo" uniqKey="Vesel S" first="Samo" last="Vesel">Samo Vesel</name><affiliation wicri:level="1"><nlm:aff id="aff3">Cardiology Unit, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Cardiology Unit, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. Yntema</name><affiliation wicri:level="3"><nlm:aff id="aff4">Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Paro Panjan, Darja" sort="Paro Panjan, Darja" uniqKey="Paro Panjan D" first="Darja" last="Paro-Panjan">Darja Paro-Panjan</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana, Slovenia</nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author></analytic><series><title level="j">Croatian Medical Journal</title><idno type="ISSN">0353-9504</idno><idno type="eISSN">1332-8166</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Romano, Aa" uniqKey="Romano A">AA Romano</name></author><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></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Burch, M" uniqKey="Burch M">M Burch</name></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 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uniqKey="Sarkozy A">A Sarkozy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Razzaque, Ma" uniqKey="Razzaque M">MA Razzaque</name></author><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><biblStruct><analytic><author><name sortKey="Niihori, T" uniqKey="Niihori T">T Niihori</name></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></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Pays-Bas</li><li>Slovénie</li></country><region><li>Gueldre</li></region><settlement><li>Nimègue</li></settlement></list><tree><country name="Slovénie"><noRegion><name sortKey="Nosan, Gregor" sort="Nosan, Gregor" uniqKey="Nosan G" first="Gregor" last="Nosan">Gregor Nosan</name></noRegion><name sortKey="Bertok, Sara" sort="Bertok, Sara" uniqKey="Bertok S" first="Sara" last="Bertok">Sara Bertok</name><name sortKey="Paro Panjan, Darja" sort="Paro Panjan, Darja" uniqKey="Paro Panjan D" first="Darja" last="Paro-Panjan">Darja Paro-Panjan</name><name sortKey="Vesel, Samo" sort="Vesel, Samo" uniqKey="Vesel S" first="Samo" last="Vesel">Samo Vesel</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Yntema, Helger G" sort="Yntema, Helger G" uniqKey="Yntema H" first="Helger G." last="Yntema">Helger G. 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