Zéphir H, Stojkovic T, Latour P, Hurtevent J F, Blankaert F, Vermersch P
Clinique Neurologique, CHRU de Lille, 59047 Lille Cedex, France.
Neuromuscul Disord. 2005 Jul;15(7):493-7. doi: 10.1016/j.nmd.2005.04.007.
Hereditary neuropathy with liability to pressure palsies is usually due to PMP22 deletion. Point mutations of PMP22 causing an hereditary neuropathy with liability to pressure palsies phenotype are rare. We describe a clinical and electrodiagnostic phenotype of hereditary neuropathy with liability to pressure palsies in a 21-year-old woman, which led to our detecting a novel frameshift mutation of PMP22. This mutation was also found in her mother and brother and corresponded to an insertion of one cytidine between nucleotides 433 and 434 in the last coding exon (c.433_434insC). The mutated PMP22 protein lacks the last 15 amino acids and has a modified C terminus lengthened to 221 residues instead of 160 (Leu145fsX222). The mother and the proband had a clinical and electrophysiological hereditary neuropathy with liability to pressure palsies phenotype. The brother was asymptomatic, but the results of electrodiagnostic tests were suggestive of hereditary neuropathy with liability to pressure palsies. This observation of a new mutation mostly leading to a PMP22 haploinsufficiency provides further evidence of the diversity of phenotypes associated with frameshift PMP22 mutations.
遗传性压力易感性周围神经病通常由PMP22基因缺失所致。导致遗传性压力易感性周围神经病表型的PMP22点突变较为罕见。我们描述了一名21岁女性遗传性压力易感性周围神经病的临床和电诊断表型，由此检测到一种新的PMP22移码突变。该突变也在其母亲和兄弟中被发现，对应于最后一个编码外显子中第433和434位核苷酸之间插入了一个胞嘧啶（c.433_434insC）。突变的PMP22蛋白缺失最后15个氨基酸，其C末端被修饰延长至221个残基而非160个（Leu145fsX222）。母亲和先证者具有临床和电生理遗传性压力易感性周围神经病表型。兄弟无症状，但电诊断测试结果提示遗传性压力易感性周围神经病。这一导致PMP22单倍体不足的新突变观察结果，为与PMP22移码突变相关的表型多样性提供了进一步证据。
