DEJERINE-SOTTAS NEUROPATHY IS ASSOCIATED WITH A DE-NOVO PMP22 MUTATION

被引：52
|
作者：
VALENTIJN, LJ
OUVRIER, RA
VANDENBOSCH, NHA
BOLHUIS, PA
BAAS, F
NICHOLSON, GA
机构：
[1] UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW,AUSTRALIA
[2] UNIV SYDNEY,CHILDRENS HOSP,DEPT PAEDIAT,CAMPERDOWN,NSW 2050,AUSTRALIA
来源：
HUMAN MUTATION | 1995年 / 5卷 / 01期
关键词：
DEJERINE-SOTTAS; PMP22; SSCP; DE NOVO MUTATION;
D O I：
10.1002/humu.1380050110
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Dejerine-Sottas neuropathy. Single stranded conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C-85-->A that results in an amino acid substitution His12Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Dejerine-Sottas neuropathy can be due to dominant single base substitutions, (C) 1995 Wiley Liss, Inc.
引用
收藏
页码：76 / 80
页数：5
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