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Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

  1. Rabia Chaudhry BSc1,*,
  2. Aditi Kidambi BSc1,
  3. Megan Hwa Brewer PhD3,
  4. Anthony Antonellis PhD3,
  5. Katherine Mathews MD2,
  6. Garth Nicholson MD, PhD1,
  7. Marina Kennerson PhD1

Article first published online: 28 MAR 2013

DOI: 10.1002/mus.23743

Additional Information

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

Author Information

  1. 1

    Northcott Neuroscience Laboratory, ANZAC Research Institute, New South Wales, Australia

  2. 2

    Department of Pediatrics and Neurology, University of Iowa, Iowa City, Iowa, USA

  3. 3

    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA

*Correspondence to: R. Chaudhry; e-mail: rchaudhry@med.usyd.edu.au

Publication History

  1. Article first published online: 28 MAR 2013
  2. Accepted manuscript online: 29 NOV 2012 11:19PM EST
  3. Manuscript Accepted: 27 NOV 2012
  4. Manuscript Revised: 25 NOV 2012
  5. Manuscript Received: 31 JUL 2012

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Keywords:

  • BSCL2;
  • CMTX3;
  • exome sequencing;
  • peripheral neuropathy;
  • X-linked Charcot;
  • Marie;
  • Tooth disease

ABSTRACT

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. Muscle Nerve, 2013

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