DNA Laboratory, Department of Child Neurology, Charles University Second Medical School and University Hospital Motol, V Úvalu 84, 15006 Prague, Czech Republic.
Muscle Nerve. 2011 Nov;44(5):819-22. doi: 10.1002/mus.22189.
We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP.
我们报告了 PMP22 基因中的四个新的点突变，具有两种不同的表型：突变 p.Ser79Thr 是在一个具有 Dejerine-Sottas 神经病（DSN）表型的患者中从头出现的；而突变 c.78+5 G>A、c.320-1 G>C 和 p.Trp140Stop 与 HNPP 在 5 个家系中分离。我们的研究结果表明，在排除 CMT1A/HNPP 后，PMP22 中的点突变在 HNPP 患者中比在 CMT1 患者中更常见。
