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BioMed Research International
Volume 2016, Article ID 3460234, 5 pages
Research Article

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism

1Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco
2Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco
3Laboratory of Biotechnology, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco

Received 2 March 2016; Revised 4 May 2016; Accepted 16 May 2016

Academic Editor: Enza M. Valente

Copyright © 2016 Rafiqua Ben El Haj et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (PINK1) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using chromosomal microarray analysis and Sanger sequencing, we identified a homozygous G/C substitution in a 58-year-old Moroccan man diagnosed with recessive inherited Parkinson’s disease. This G-to-C transition occurred at position 1617 leading to an amino acid change L/F at position 539 located in highly conserved motif in the C terminal sequence of PINK1. Interestingly, the c.1617G>C substitution is absent in 192 ethnically matched control chromosomes. Our findings have shown that the p.L539F is a novel mutation located in the C terminal sequence of the PINK1 protein that could be pathogenic and responsible for a clinical phenotype resembling idiopathic Parkinson’s disease with rapid progression and early cognitive impairment.