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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 fami...

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Autores principales: Liu, Zhirong, Ding, Yao, Du, Ailian, Zhang, Baorong, Zhao, Guohua, Ding, Meiping
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579934/
https://www.ncbi.nlm.nih.gov/pubmed/18989381
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author Liu, Zhirong
Ding, Yao
Du, Ailian
Zhang, Baorong
Zhao, Guohua
Ding, Meiping
author_facet Liu, Zhirong
Ding, Yao
Du, Ailian
Zhang, Baorong
Zhao, Guohua
Ding, Meiping
author_sort Liu, Zhirong
collection PubMed
description 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 θ=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.
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spelling pubmed-25799342008-11-06 A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO Liu, Zhirong Ding, Yao Du, Ailian Zhang, Baorong Zhao, Guohua Ding, Meiping Mol Vis Research Article 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 θ=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. Molecular Vision 2008-11-03 /pmc/articles/PMC2579934/ /pubmed/18989381 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Liu, Zhirong
Ding, Yao
Du, Ailian
Zhang, Baorong
Zhao, Guohua
Ding, Meiping
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
title A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
title_full A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
title_fullStr A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
title_full_unstemmed A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
title_short A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
title_sort novel twinkle (peo1) gene mutation in a chinese family with adpeo
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579934/
https://www.ncbi.nlm.nih.gov/pubmed/18989381
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