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Verfasst von:Kassner, Ursula [VerfasserIn]   i
 März, Winfried [VerfasserIn]   i
Titel:Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants
Verf.angabe:Ursula Kassner, Bastian Salewsky, Marion Wühle-Demuth, Istvan Andras Szijarto, Thomas Grenkowitz, Priska Binner, Winfried März, Elisabeth Steinhagen-Thiessen and Ilja Demuth
E-Jahr:2015
Jahr:14 January 2015
Umfang:3 S.
Fussnoten:Gesehen am 06.03.2018
Titel Quelle:Enthalten in: European journal of human genetics
Ort Quelle:Basingstoke : Stockton Press, 1998
Jahr Quelle:2015
Band/Heft Quelle:23(2015), 9, Seite 1259-1261
ISSN Quelle:1476-5438
Abstract:Rare monogenic hyperchylomicronemia is caused by loss-of-function mutations in genes involved in the catabolism of triglyceride-rich lipoproteins, including the lipoprotein lipase gene, LPL. Clinical hallmarks of this condition are eruptive xanthomas, recurrent pancreatitis and abdominal pain. Patients with LPL deficiency and severe or recurrent pancreatitis are eligible for the first gene therapy treatment approved by the European Union. Therefore the precise molecular diagnosis of familial hyperchylomicronemia may affect treatment decisions. We present a 57-year-old male patient with excessive hypertriglyceridemia despite intensive lipid-lowering therapy. Abdominal sonography showed signs of chronic pancreatitis. Direct DNA sequencing and cloning revealed two novel missense variants, c.1302A>T and c.1306G>A, in exon 8 of the LPL gene coexisting on the same allele. The variants result in the amino-acid exchanges p.(Lys434Asn) and p.(Gly436Arg). They are located in the carboxy-terminal domain of lipoprotein lipase that interacts with the glycosylphosphatidylinositol-anchored HDL-binding protein (GPIHBP1) and are likely of functional relevance. No further relevant mutations were found by direct sequencing of the genes for APOA5, APOC2, LMF1 and GPIHBP1. We conclude that heterozygosity for damaging mutations of LPL may be sufficient to produce severe hypertriglyceridemia and that chylomicronemia may be transmitted in a dominant manner, at least in some families.
DOI:doi:10.1038/ejhg.2014.295
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: http://dx.doi.org/10.1038/ejhg.2014.295
 Volltext: https://www-nature-com.ezproxy.medma.uni-heidelberg.de/articles/ejhg2014295
 DOI: https://doi.org/10.1038/ejhg.2014.295
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1570563365
Verknüpfungen:→ Zeitschrift

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