A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
OBJECTIVE
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.
Liu
Zhirong
Z
Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
Ding
Yao
Y
Du
Ailian
A
Zhang
Baorong
B
Zhao
Guohua
G
Ding
Meiping
M
D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004265:DNA Helicases / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005190:Family; D005260:Female; D017353:Gene Deletion; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010375:Pedigree
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D004265:DNA Helicases; C431576:TWNK protein, human