Format

Send to

Choose Destination
See comment in PubMed Commons below
Muscle Nerve. 2013 Jun;47(6):922-4. doi: 10.1002/mus.23743. Epub 2013 Mar 29.

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

Author information

1
Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia. rchaudhry@med.usyd.edu.au

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.

PMID:
23553728
PMCID:
PMC5175269
DOI:
10.1002/mus.23743
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Support Center