Article
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
PLoS genetics - 1 Jul 2016
Brewer Megan H, Chaudhry Rabia, Qi Jessica, Kidambi Aditi, Drew Alexander P, Menezes Manoj P, Ryan Monique M, Farrar Michelle A, Mowat David, Subramanian Gopinath M, Young Helen K, Zuchner Stephan, Reddel Stephen W, Nicholson Garth A, Kennerson Marina L
Abstract excerpt
With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locus at chromosome Xq26.3-q27.3, all coding mutations were excluded. Using whole genome sequencing we found a large DNA interchromosomal insertion within the CMTX3...
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