DE-NOVO MUTATION OF THE MYELIN P(O) GENE IN DEJERINE-SOTTAS DISEASE (HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-III)
DE-NOVO MUTATION OF THE MYELIN P(O) GENE IN DEJERINE-SOTTAS DISEASE (HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-III)
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DOI：
10.1038/ng1193-266
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发表时间：
1993-11-01
期刊：
影响因子：
30.8
通讯作者：
TACHI, N
中科院分区：
文献类型：
--
作者：
HAYASAKA, K;HIMORO, M;TACHI, N
我们在两例散发的DeJerine-Sottas病或遗传性运动和感觉神经病(HMSN)III型病例中研究了1号染色体上的髓磷脂P(O)基因作为候选基因。我们发现了不同的突变，胞外区的半胱氨酸替代丝氨酸63，跨膜区的精氨酸替代甘氨酸167。这些患者的正常等位基因和突变等位基因在基因上是杂合的，这在他们的父母和100名无关的健康对照中是不存在的。这些结果有力地表明，P(O)基因的从头显性突变至少与一些散发的DeJerine-Sottas病有关。
We have investigated the myelin P(o) gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine substitution for glycine 167 in the transmembrane domain. The patients were genetically heterozygous for the normal allele and the mutant allele, which was absent in their parents and in one hundred unrelated, healthy controls. The results strongly suggest that a de novo dominant mutation of the P(o) gene is responsible for at least some sporadic cases of Dejerine-Sottas disease.