A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
- 作者：Deschauer ; Marcus ; Hudson ; Gavin ; M脙脙ller ; Tobias ; Taylor ; Robert W. ; Chinnery ; Patrick F. ; et. al.
- 关键词：Mitochondrial disease ; Multiple mitochondrial DNA deletions ; Novel mutation ; ANT1 gene
- 刊名：Neuromuscular Disorders
- 出版年：2005
- 期刊代码：203_09608966
- 类别：med
- 出版时间：April, 2005
- 卷：15
- 期：4
- 页码：311-315
- 文件大小：299 K
摘要
Only four different mutations in the adenine nucleotide translocator 1 (ANT1) gene have been found in families with progressive external ophthalmoplegia (PEO). We report a novel heterozygous C to A transversion at nucleotide 269 in the ANT1 gene in a German family with PEO, predicted to convert a highly conserved alanine at codon 90 to aspartic acid. The mutation was identified in three siblings with PEO, one of them additionally suffered from schizoaffective disorder. Microsatellite analysis showed that the mutation was dominant and inherited from the mother who did not carry the mutation in blood, indicating germ-line mosaicism.