Journal article
Re‐analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
Muscle & nerve, Vol.47(6), pp.922-924
06/2013
DOI: 10.1002/mus.23743
PMCID: PMC5175269
PMID: 23553728
Abstract
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 47: 922–924, 2013
Details
- Title: Subtitle
- Re‐analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
- Creators
- Rabia Chaudhry - ANZAC Research InstituteAditi Kidambi - ANZAC Research InstituteMegan Hwa Brewer - University of Michigan Medical SchoolAnthony Antonellis - University of Michigan Medical SchoolKatherine Mathews - University of IowaGarth Nicholson - ANZAC Research InstituteMarina Kennerson - ANZAC Research Institute
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.47(6), pp.922-924
- DOI
- 10.1002/mus.23743
- PMID
- 23553728
- PMCID
- PMC5175269
- NLM abbreviation
- Muscle Nerve
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Number of pages
- 4
- Language
- English
- Date published
- 06/2013
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020764502771
Metrics
29 Record Views