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Published on: August 15, 2019
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
Rabia Chaudhry1, Aditi Kidambi, Megan Hwa Brewer
1Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia. rchaudhry@med.usyd.edu.au
Introduction:
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.
Methods:
Three members of the family underwent exome sequencing. Candidate variants were validated by PCR and Sanger sequencing analysis.
Conclusion:
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.
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