Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation c.959G>CReport as inadecuate




Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation c.959G>C - Download this document for free, or read online. Document in PDF available to download.

Case Reports in Genetics - Volume 2016 2016, Article ID 9280812, 4 pages -

Case Report

Division of Hematology-Oncology, Mayo Clinic, Jacksonville, FL 32224, USA

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA

Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA

Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA

Received 19 January 2016; Revised 27 March 2016; Accepted 4 April 2016

Academic Editor: Balraj Mittal

Copyright © 2016 Abhisek Swaika et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management Nguyen et al., 2007; Narayanaswami et al., 2014. Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and requires a high clinical suspicion for early intervention to prolong survival. Amyloid myopathy is typically associated with other systemic manifestations of amyloidosis, but rare cases of isolated amyloid myopathy have been described Mandl et al., 2000; Hull et al., 2001. Positive Congo red stains on tissue biopsy remain the gold standard for diagnosis Spuler et al., 1998; Karacostas et al., 2005. A high clinical suspicion and meticulous diagnostic workup that includes novel techniques are necessary for identifying these rare disorders. We report a middle-aged man with progressive leg muscle weakness who was initially treated as having amyloid myopathy but was later diagnosed as having dysferlinopathy by Whole Exome Sequencing WES analysis. We also report a novel missense mutation c.959G>C to help correlate in any patient with presumed dysferlinopathy and to add to the already known genotype of this disorder.





Author: Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, and Sikander

Source: https://www.hindawi.com/



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