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High frequency of Parkin exon rearrangements in Mexican‐mestizo patients with early‐onset Parkinson's disease
Author(s) -
Camacho Jorge Luis Guerrero,
Jaramillo Nancy Monroy,
Gómez Petra Yescas,
Violante Mayela Rodríguez,
Woehrlen Catherine Boll,
Vilatela Ma. Elisa Alonso,
López López Marisol
Publication year - 2012
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.25030
Subject(s) - parkin , exon , genetics , mutation , compound heterozygosity , breakpoint , mutation frequency , etiology , coding region , medicine , biology , parkinson's disease , disease , gene , chromosomal translocation
Background: Parkin mutations in patients with early‐onset Parkinson's disease (EOPD) are estimated to occur in 49% of familial cases and 18% of sporadic cases. Methods: We analyzed the entire sequence‐coding region and dosage mutations of parkin in 63 Mexican‐mestizo EOPD patients and 120 controls. Results: Parkin mutations were present in 34 patients (54.0%). Exon rearrangements, predominantly spanning exons 9 and 12 (31.7% and 19.0%, respectively) were present in 32 patients, with 17.5% carrying simple heterozygous and 25.4% carrying compound heterozygous parkin mutations. Conclusions: A higher frequency of parkin exon rearrangements than of sequence mutations was observed. Patients with parkin exons 9 and 12 rearrangements showed a later age at onset than did cases with other regions affected (40.3 ± 4.5 vs 30.1 ± 8.8; P = .005), suggesting a mutational hot spot in the etiology of Mexican‐mestizo patients with EOPD. To our knowledge, this study represents the largest sampling of Mexican‐mestizo patients with EOPD cases for which parkin sequence and dosage alterations were analyzed. © 2012 Movement Disorder Society