title: Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.
abstract: Parkinson's disease (PD) is the second most common neurodegenerative disorder, after Alzheimer's disease. Genomic rearrangements are common mutations reported in PD patients. In this study, we investigated the prevalence of genomic rearrangements in a total of 232 Iranian PD patients, out of which 102 were sporadic early-onset (age-at-onset ≤ 45 years) and 51 had a family history. We used multiplex ligation-dependent probe amplification (MLPA) method to detect exon dosage changes. Two new improved probe kits, SALSA P051 and P052, were used and altogether α-synuclein, parkin, UCHL1, PINK1, DJ-1, LRRK2, GCH1, ATP13A2, CAV1, CAV2, LPA and TNFRSF9 genes were analyzed. Exon or whole-gene rearrangements were identified in 14 (13.7%) sporadic early-onset PD patients in parkin, α-synuclein and PINK1. Of familial PD patients 46 cases from 18 families (35.3%) showed exon or whole-gene rearrangements in parkin, α-synuclein, PINK1, DJ-1, and ATP13A2 genes. All changes were verified by quantitative PCR (qPCR). Novel mutations and unusual clinical features are reported in this study. Mutations in parkin were the predominant genetic cause in both early-onset and familial PD groups. Also the mutations observed in family PD group are more in number and diversity than the sporadic early-onset PD group.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. darvish_mg@yahoo.com
authors.forename: Hossein
authors.initials: H
authors.lastname: Darvish
authors.forename: Abolfazl
authors.initials: A
authors.lastname: Movafagh
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
authors.forename: Saghar Ghasemi
authors.initials: SG
authors.lastname: Firouzabadi
authors.forename: Eznollah
authors.initials: E
authors.lastname: Azargashb
authors.forename: Javad
authors.initials: J
authors.lastname: Jamshidi
authors.forename: Ali
authors.initials: A
authors.lastname: Khaligh
authors.forename: Leyla
authors.initials: L
authors.lastname: Haghnejad
authors.forename: Nilofar Safavi
authors.initials: NS
authors.lastname: Naeini
authors.forename: Atefeh
authors.initials: A
authors.lastname: Talebi
authors.forename: Hamid Reza
authors.initials: HR
authors.lastname: Heidari-Rostami
authors.forename: Hamid
authors.initials: H
authors.lastname: Noorollahi-Moghaddam
authors.forename: Siamak
authors.initials: S
authors.lastname: Karkheiran
authors.forename: Gholam-Ali
authors.initials: GA
authors.lastname: Shahidi
authors.forename: Seyed Mohammad Hassan
authors.initials: SM
authors.lastname: Paknejad
authors.forename: Hossein
authors.initials: H
authors.lastname: Ashrafian
authors.forename: Siamak
authors.initials: S
authors.lastname: Abdi
authors.forename: Matin
authors.initials: M
authors.lastname: Kayyal
authors.forename: Mojdeh
authors.initials: M
authors.lastname: Akbari
authors.forename: Negar
authors.initials: N
authors.lastname: Pedram
authors.forename: Babak
authors.initials: B
authors.lastname: Emamalizadeh
mesh_terms: D005260:Female; D018628:Gene Dosage; D006801:Humans; D007492:Iran; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*
keywords: Copy number changes; Exon dosage; MLPA; Parkinson's disease