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

dc.contributor.authorChaudhry, Rabiaen_US
dc.contributor.authorKidambi, Aditien_US
dc.contributor.authorBrewer, Megan Hwaen_US
dc.contributor.authorAntonellis, Anthonyen_US
dc.contributor.authorMathews, Katherineen_US
dc.contributor.authorNicholson, Garthen_US
dc.contributor.authorKennerson, Marinaen_US
dc.date.accessioned2013-06-18T18:33:16Z
dc.date.available2014-08-01T19:11:34Zen_US
dc.date.issued2013-06en_US
dc.identifier.citationChaudhry, Rabia; Kidambi, Aditi; Brewer, Megan Hwa; Antonellis, Anthony; Mathews, Katherine; Nicholson, Garth; Kennerson, Marina (2013). "Re‐analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation." Muscle & Nerve 47(6): 922-924. <http://hdl.handle.net/2027.42/98354>en_US
dc.identifier.issn0148-639Xen_US
dc.identifier.issn1097-4598en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/98354
dc.description.abstractIntroduction 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, 2013en_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherCMTX3en_US
dc.subject.otherExome Sequencingen_US
dc.subject.otherPeripheral Neuropathyen_US
dc.subject.otherX‐Linked Charcoten_US
dc.subject.otherMarieen_US
dc.subject.otherTooth Diseaseen_US
dc.subject.otherBSCL2en_US
dc.titleRe‐analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutationen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelNeurosciencesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.identifier.pmid23553728en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/98354/1/mus23743.pdf
dc.identifier.doi10.1002/mus.23743en_US
dc.identifier.sourceMuscle & Nerveen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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