Novel PINK1 mutations in early-onset parkinsonism.
PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.
Hatano
Yasuko
Y
Department of Neurology, Juntendo University School of Medicine, Tokyo.
Li
Yuanzhe
Y
Sato
Kenichi
K
Asakawa
Shuichi
S
Yamamura
Yasuhiro
Y
Tomiyama
Hiroyuki
H
Yoshino
Hiroyo
H
Asahina
Masato
M
Kobayashi
Susumu
S
Hassin-Baer
Sharon
S
Lu
Chin-Song
CS
Ng
Arlene R
AR
Rosales
Raymond L
RL
Shimizu
Nobuyoshi
N
Toda
Tatsushi
T
Mizuno
Yoshikuni
Y
Hattori
Nobutaka
N
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000201:enzymology* / Q000235:genetics*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase