Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia☆
نویسندگان
چکیده
Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.
منابع مشابه
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
PURPOSE Autosomal dominant progressive external ophthalmoplegia (adPEO) is a genetically heterogeneous, adult-onset disease. Thus far, disease loci have been identified on four different nuclear genes. The purpose of this study is to identify the gene responsible for causing adPEO in a Chinese family. METHODS Clinical data and genomic DNA of a Chinese adPEO family were collected following inf...
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عنوان ژورنال:
دوره 308 شماره
صفحات -
تاریخ انتشار 2011