The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
Identifieur interne : 000D81 ( Pmc/Checkpoint ); précédent : 000D80; suivant : 000D82The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
Auteurs : Sarah Joyce [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Rani Nagaraja [Royaume-Uni] ; John Short [Royaume-Uni] ; Sandra Moore [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2015.
Abstract
The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS–MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.
Url:
DOI: 10.1038/ejhg.2015.175
PubMed: 26242988
PubMed Central: 4930084
Affiliations:
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PMC:4930084Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS–MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.</p>
</div>
</front>
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<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
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<title-group><article-title>The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome</article-title>
<alt-title alt-title-type="running">The lymphatic phenotype in Noonan and CFC syndrome</alt-title>
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<given-names>Sarah</given-names>
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<xref ref-type="aff" rid="aff1">1</xref>
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<contrib contrib-type="author"><name><surname>Gordon</surname>
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<contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-2190-1356</contrib-id>
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<contrib contrib-type="author"><name><surname>Nagaraja</surname>
<given-names>Rani</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
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<given-names>John</given-names>
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</contrib>
<contrib contrib-type="author"><name><surname>Moore</surname>
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<permissions><copyright-statement>Copyright © 2016 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2016</copyright-year>
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<abstract><p>The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS–MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are known to be associated with lymphatic problems, but this has not been well characterised to date. We describe 11 patients with Noonan or CFC syndrome with significant, persistent and progressive lymphatic dysplasia. The lymphatic disorders in Noonan and CFC syndrome are rare, but have a characteristic pattern with bilateral lower limb lymphoedema, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive. Lymphoscintigraphy demonstrates reflux and/or rerouting of lymphatic drainage associated with incompetent veins on the venous duplex scans.</p>
</abstract>
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<name sortKey="Moore, Sandra" sort="Moore, Sandra" uniqKey="Moore S" first="Sandra" last="Moore">Sandra Moore</name>
<name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name>
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