IDENTICAL POINT MUTATIONS OF PMP-22 IN TREMBLER-J MOUSE AND CHARCOT-MARIE-TOOTH DISEASE TYPE-1A

被引：416

作者：

VALENTIJN, LJ ^{[1
]}

BAAS, F ^{[1
]}

WOLTERMAN, RA ^{[1
]}

HOOGENDIJK, JE ^{[1
]}

VANDENBOSCH, NHA ^{[1
]}

ZORN, I ^{[1
]}

GABREELSFESTEN, AWM ^{[1
]}

DEVISSER, M ^{[1
]}

BOLHUIS, PA ^{[1
]}

机构：

[1] UNIV HOSP NIJMEGEN,INST NEUROL,NIJMEGEN,NETHERLANDS

来源：

NATURE GENETICS | 1992年 / 2卷 / 04期

关键词：

D O I：

10.1038/ng1292-288

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A). The DNA duplication commonly found in CMT1A was absent in this family, but strong linkage existed between the disease and the CMT1A marker VAW409R3 on chromosome 17p11.2. We found a point mutation in PMP-22 which was completely linked with the disease. The mutation, a proline for leucine substitution in the first putative transmembrane domain, is identical to that recently found in the Trembler-J mouse. The presence of this PMP-22 defect in this CMT1A family and the location of PMP-22 within the DNA duplication associated with CMT1A suggest that both structural alteration and overexpression of PMP-22 may lead to the disease.

引用

页码：288 / 291

页数：4

共 31 条

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