A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism
Joint Authors
Tazi-Ahnini, Rachid
Ben El Haj, Rafiqua
Regragui, Wafaa
Skalli, Asmae
Bouslam, Naima
Benomar, Ali
Yahyaoui, Mohamed
Bouhouche, Ahmed
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-06-20
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Ben El Haj, Rafiqua& Regragui, Wafaa& Tazi-Ahnini, Rachid& Skalli, Asmae& Bouslam, Naima& Benomar, Ali…[et al.]. 2016. A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism. BioMed Research International،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1097344
Modern Language Association (MLA)
Ben El Haj, Rafiqua…[et al.]. A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism. BioMed Research International No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1097344
American Medical Association (AMA)
Ben El Haj, Rafiqua& Regragui, Wafaa& Tazi-Ahnini, Rachid& Skalli, Asmae& Bouslam, Naima& Benomar, Ali…[et al.]. A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1097344
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1097344