title: Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia. rchaudhry@med.usyd.edu.au
authors.forename: Rabia
authors.initials: R
authors.lastname: Chaudhry
authors.forename: Aditi
authors.initials: A
authors.lastname: Kidambi
authors.forename: Megan Hwa
authors.initials: MH
authors.lastname: Brewer
authors.forename: Anthony
authors.initials: A
authors.lastname: Antonellis
authors.forename: Katherine
authors.initials: K
authors.lastname: Mathews
authors.forename: Garth
authors.initials: G
authors.lastname: Nicholson
authors.forename: Marina
authors.initials: M
authors.lastname: Kennerson
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits
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