LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A
Institut National de la Santé et de la Recherche Médicale U289, Hôpital de la Salpêtrière, Paris, France.
Ann Neurol. 1997 Jan;41(1):104-8. doi: 10.1002/ana.410410117.
Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-Marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was variable among the homozygotes, one of whom was no more severely affected than the heterozygous sibling who was paucisymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene.
1A型腓骨肌萎缩症是一种遗传性感觉运动神经病，最常与17p11.2染色体重复相关。该区域包含外周髓鞘蛋白22（PMP22）基因，17p11.2重复导致的基因剂量效应致使1A型腓骨肌萎缩症表型的出现。我们对一个近亲婚配的1A型腓骨肌萎缩症家族进行了临床、电生理和遗传学研究，该家族有4名患病同胞，其中3名是17p11.2重复的纯合子，另一名是杂合子。表型比较显示，疾病严重程度在纯合子中存在差异，其中一名纯合子的病情并不比症状轻微的杂合子同胞更严重。这些结果表明，疾病的严重程度并非仅由PMP22基因的拷贝数决定。
