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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...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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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. |
format | Text |
id | pubmed-2579934 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
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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