Høyer Helle, Braathen Geir J, Eek Anette K, Skjelbred Camilla F, Russell Michael B
Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway.
Eur J Med Genet. 2011 Nov-Dec;54(6):e580-3. doi: 10.1016/j.ejmg.2011.06.006. Epub 2011 Jul 18.
Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes.
Conventional sequencing of six CMT genes were followed by Multiplex Ligation-dependent Probe Amplification (MLPA), array Comparative Genomic Hybridization (aCGH) and breakpoint analysis in a large Norwegian CMT pedigree. Affected had an extra copy of the myelin protein zero (MPZ) gene.
To our knowledge this is the first non-peripheral myelin protein 22 copy number variation to cause Charcot-Marie-Tooth disease.
夏科-马里-图斯病（CMT）是周围神经系统最常见的遗传性疾病。大多数病例存在外周髓鞘蛋白22的重复。CMT的其他病因是44个已知CMT基因中某一个的点突变或小的插入/缺失。
对一个大型挪威CMT家系的六个CMT基因进行常规测序，随后进行多重连接依赖探针扩增（MLPA）、阵列比较基因组杂交（aCGH）和断点分析。患者有髓鞘蛋白零（MPZ）基因的额外拷贝。
据我们所知，这是首个导致夏科-马里-图斯病的非外周髓鞘蛋白22拷贝数变异。
