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Re‐analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation
Author(s) -
Chaudhry Rabia,
Kidambi Aditi,
Brewer Megan Hwa,
Antonellis Anthony,
Mathews Katherine,
Nicholson Garth,
Kennerson Marina
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23743
Subject(s) - exome sequencing , sanger sequencing , genetics , exome , biology , locus (genetics) , dna sequencing , gene , mutation
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