RNA ‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

ConclusionsWhile mosaic mutations and deletions ofEXT1 andEXT2 have been reported in the context of multiple osteochondromas, to our knowledge, this is the first time that transcriptomics technologies have been used to diagnose a patient via fusion transcript analysis in the congenital disease setting.

Source: Molecular Genetics & Genomic Medicine - January 10, 2019 Category: Genetics & Stem Cells Authors: Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M. Werf, Wim Wuyts, Dusica Babovic ‐Vuksanovic, Eric W. Klee Tags: ORIGINAL ARTICLE Source Type: research