Performant Mutation Identification Using Targeted Next‐Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. Issue 8 (13th June 2015)

• Record Type: Journal Article
• Authors: Proost, Dorien; Vandeweyer, Geert; Meester, Josephina A.N.; Salemink, Simone; Kempers, Marlies; Ingram, Christie; Peeters, Nils; Saenen, Johan; Vrints, Christiaan; Lacro, Ronald V.; Roden, Dan; Wuyts, Wim; Dietz, Harry C.; Mortier, Geert; Loeys, Bart L.; Van Laer, Lut
• Is Part Of: Human mutation. Volume 36:Issue 8(2015:Aug.)
• Page Start: 808
• Page End: 814
• Publication Date: 2015-06-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22802
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22802-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Thoracic aortic aneurysm (TAA) is an important cause of death in the industrialized world. Both syndromic and non‐syndromic forms of TAA exists and to date 14 causative genes have been identified. To shorten the turnaround time, increase mutation‐uptake and reduce the overall cost of molecular testing, we developed a next generation sequencing panel of 14 TAA genes (<italic>ACTA2</italic>, <italic>COL3A1</italic>, <italic>EFEMP2</italic>, <italic>FBN1</italic>, <italic>FLNA</italic>, <italic>MYH11</italic>, <italic>MYLK</italic>, <italic>NOTCH1</italic>, <italic>SKI</italic>, <italic>SLC2A10</italic>, <italic>SMAD3</italic>, <italic>TGFB2</italic>, <italic>TGFBR1</italic> and <italic>TGFBR2</italic>) that can be tested simultaneously. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj296tvvc1" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>