Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.
The results of mutation screening of 24 exons of LRRK2 in 60 Iranian Parkinson's Disease patients are presented. The Iranian cohort represents a novel population and was notably young (average age at onset of disease: 36.0 years). Fifty sequence variations were found, seventeen of which are novel. Variations considered possibly associated with disease were screened in available family members, 145 additional patients and 220 control individuals. It was surmised that four novel sequence variations (IVS49+178A>G, p.R1725Q, p.Q1823K, and p.D2175H) may be associated with PD status, albeit they may be very rare non-disease associated variations. The four variations were all observed in the heterozygous state in early onset cases. If one or more of the variations do indeed contribute to disease status, their penetrance is expected to be low.
Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.
Seyedmehdi
S
Shojaee
Zeinab
Z
Fazlali
Farzaneh
F
Ghazavi
Setareh Sadat
SS
Banihosseini
Mohammad Hossein
MH
Kazemi
Khosro
K
Parsa
Homa
H
Sadeghi
Farzad
F
Sina
Gholam-Ali
GA
Shahidi
Mostafa
M
Ronaghi
Elahe
E
Elahi
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D055815:Young Adult
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases