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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

ABSTRACT:

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 informed consent. Gene scan by two-point linkage analysis was performed for four genes, and mutation screening was conducted in the Twinkle (PEO1) gene by direct sequencing.

Results

A maximum two-point LOD score of 2.8 at theta=0.00 was obtained with marker D10S192 in close proximity to PEO1. A novel missense mutation (c.1423G>A, p.475A>T) was identified.

Conclusions

This study widens the mutation spectrum of PEO1 and is the first to report the PEO1 mutation in the Chinese population.

SUBMITTER: Liu Z

PROVIDER: S-EPMC2579934 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

Liu Zhirong Z Ding Yao Y Du Ailian A Zhang Baorong B Zhao Guohua G Ding Meiping M

Molecular vision 20081103

<h4>Purpose</h4>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.<h4>Methods</h4>Clinical data and genomic DNA of a Chinese adPEO family were collected following informed consent. Gene scan by two-point linkage analysis was performed for four genes, and m ...[more]

PMID: 18989381

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