A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO
Zhirong Liu1, Yao Ding, Ailian Du
1Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
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.
More Related Videos
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Single Nucleotide Polymorphisms-SNPs
Pleiotropy
Epistasis Analysis
Incomplete Dominance
Alzheimer Disease l: Introduction
