Analysis of LRRK2 functional domains in nondominant Parkinson disease.
A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.
Skipper
L
L
Department of Population Genetics, Genome Institute of Singapore, Singapore.
Shen
H
H
Chua
E
E
Bonnard
C
C
Kolatkar
P
P
Tan
L C S
LC
Jamora
R D
RD
Puvan
K
K
Puong
K Y
KY
Zhao
Y
Y
Pavanni
R
R
Wong
M C
MC
Yuen
Y
Y
Farrer
M
M
Liu
J J
JJ
Tan
E K
EK
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D044469:Racial Groups; D017678:Sex Distribution
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases