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

Rabia Chaudhry; Aditi Kidambi; Megan Hwa Brewer; Anthony Antonellis; Katherine Mathews; Garth Nicholson; Marina Kennerson

doi:10.1002/mus.23743

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

Rabia Chaudhry^*, Aditi Kidambi, Megan Hwa Brewer, Anthony Antonellis, Katherine Mathews, Garth Nicholson, Marina Kennerson

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

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.

Original language	English
Pages (from-to)	922-924
Number of pages	3
Journal	Muscle and Nerve
Volume	47
Issue number	6
DOIs	https://doi.org/10.1002/mus.23743
Publication status	Published - Jun 2013
Externally published	Yes

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title = "Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation",

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.",

author = "Rabia Chaudhry and Aditi Kidambi and Brewer, {Megan Hwa} and Anthony Antonellis and Katherine Mathews and Garth Nicholson and Marina Kennerson",

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T1 - Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation

AU - Chaudhry, Rabia

AU - Kidambi, Aditi

AU - Brewer, Megan Hwa

AU - Antonellis, Anthony

AU - Mathews, Katherine

AU - Nicholson, Garth

AU - Kennerson, Marina

PY - 2013/6

Y1 - 2013/6

N2 - 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.

AB - 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.

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

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