Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia.
Muscle Nerve. 2013 Jun;47(6):922-4. doi: 10.1002/mus.23743. Epub 2013 Mar 29.
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.
Three members of the family underwent exome sequencing. Candidate variants were validated by PCR and Sanger sequencing analysis.
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.
Charcot-Marie-Tooth (CMT) 病是一组影响运动和感觉神经的周围神经病。CMTX3 是一种 X 连锁的 CMT 基因座，定位于 Xq26.3-q27.3。最初，CMTX3 被定位于两个美国家庭的 31.2Mb 区域。我们通过下一代测序重新检查了其中一个原始家庭（US-PED2）。
该家庭的 3 名成员接受了外显子组测序。通过 PCR 和 Sanger 测序分析验证候选变体。
未发现定位于 CMTX3 区域的致病性编码变异。然而，外显子组测序鉴定出了一个已知的 BSCL2 突变（N88S）。这项研究证明了外显子组测序作为一种工具的强大功能，可在没有统计学上显著的连锁数据的情况下，识别小家庭的基因突变。
