A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
复制标题
髓磷脂 Po 基因的一种新型纯合突变可导致 Dejerine-Sottas 病（III 型遗传性运动和感觉神经病）。
DOI：
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发表时间：
1996
期刊：
影响因子：
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通讯作者：
K. Hayasaka
中科院分区：
文献类型：
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作者：
T. Ikegami;G. Nicholson;H. Ikeda;A. Ishida;H. Johnston;G. Wise;R. Ouvrier;K. Hayasaka
我们以前曾报道，杂合性髓磷脂Po基因突变与腓骨肌萎缩症1B型（CMT 1B）或Dejerine-Sottas病。我们调查了Po基因在一个家庭与临床Dejerine-Sottas病，发现两个孩子是纯合子的Phe 64缺失。父母是杂合子的堂兄弟姐妹，具有亚临床CMT 1B和缓慢的神经传导速度。这些结果表明，纯合Phe 64缺失对髓鞘形成损伤的影响是剂量依赖性的。临床表型和/或髓磷脂损伤可以通过突变的类型和突变基因的剂量来确定。
We have previously reported that heterozygosity for myelin Po gene mutations were associated with Charcot-Marie-Tooth disease type 1B (CMT1B) or Dejerine-Sottas disease. We investigated the Po gene in a family with clinical Dejerine-Sottas disease and found two children were homozygous for a deletion of Phe 64. The parents were heterozygous first cousins with subclinical CMT1B and slow nerve conduction velocities. These results suggest that the effect of homozygous Phe 64 deletion on impairment of myelination is dosage-dependent. Clinical phenotype and/or myelin impairment may be determined both by the type of mutation and by the dosage of mutated gene.