Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
Article first published online: 28 MAR 2013
Copyright © 2012 Wiley Periodicals, Inc.
How to Cite
Chaudhry, R., Kidambi, A., Brewer, M. H., Antonellis, A., Mathews, K., Nicholson, G. and Kennerson, M. (2013), Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve. doi: 10.1002/mus.23743
- Article first published online: 28 MAR 2013
- Accepted manuscript online: 29 NOV 2012 11:19PM EST
- Manuscript Accepted: 27 NOV 2012
- Manuscript Revised: 25 NOV 2012
- Manuscript Received: 31 JUL 2012
- exome sequencing;
- peripheral neuropathy;
- X-linked Charcot;
- Tooth disease
Charcot–Marie–Tooth (CMT) disease is a group of peripheral neuropathies affecting both motor and sensory nerves. CMTX3 is an X-linked CMT locus, which maps to chromosome Xq26.3–q27.3. Initially, CMTX3 was mapped to a 31.2-Mb region in 2 American families. We have reexamined 1 of the original families (US-PED2) by next generation sequencing.
Three members of the family underwent exome sequencing. Candidate variants were validated by PCR and Sanger sequencing analysis.
No pathogenic coding variants localizing to the CMTX3 region were identified. However, exome sequencing identified a known BSCL2 mutation (N88S). This study demonstrates the power of exome sequencing as a tool to identify gene mutations for a small family in the absence of statistically significant linkage data. Muscle Nerve, 2013