Taghavi, S. and Chaouni, R. and Tafakhori, A. and Azcona, L.J. and Firouzabadi, S.G. and Omrani, M.D. and Jamshidi, J. and Emamalizadeh, B. and Shahidi, G.A. and Ahmadi, M. and Habibi, S.A.H. and Ahmadifard, A. and Fazeli, A. and Motallebi, M. and Petramfar, P. and Askarpour, S. and Askarpour, S. and Shahmohammadibeni, H.A. and Shahmohammadibeni, N. and Eftekhari, H. and Shafiei Zarneh, A.E. and Mohammadihosseinabad, S. and Khorrami, M. and Najmi, S. and Chitsaz, A. and Shokraeian, P. and Ehsanbakhsh, H. and Rezaeidian, J. and Ebrahimi Rad, R. and Madadi, F. and Andarva, M. and Alehabib, E. and Atakhorrami, M. and Mortazavi, S.E. and Azimzadeh, Z. and Bayat, M. and Besharati, A.M. and Harati-Ghavi, M.A. and Omidvari, S. and Dehghani-Tafti, Z. and Mohammadi, F. and Mohammad Hossein Pour, B. and Noorollahi Moghaddam, H. and Esmaili Shandiz, E. and Habibi, A. and Taherian-Esfahani, Z. and Darvish, H. and Paisán-Ruiz, C. (2018) A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. Molecular Neurobiology, 55 (4). pp. 3477-3489.
Full text not available from this repository.Abstract
In this study, the role of known Parkinson�s disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families. © 2017, Springer Science+Business Media New York.
| Item Type: | Article |
|---|---|
| Additional Information: | cited By 4 |
| Uncontrolled Keywords: | parkin; protein deglycase DJ-1, adult; Article; autosomal recessive disorder; differential diagnosis; DJ 1 gene; dystonia; female; frameshift mutation; gene; gene mutation; gene rearrangement; gene sequence; genetic association; human; Iranian (citizen); Iranian people; major clinical study; male; missense mutation; mutational analysis; nonsense mutation; parkin gene; Parkinson disease; parkinsonism; phenotype; PINK1 gene; polymerase chain reaction; quantitative analysis; Sanger sequencing; SYNJ1 gene; VAC14 gene; whole genome sequencing |
| Subjects: | WL Nervous System QZ Pathology |
| Depositing User: | eprints admin |
| Date Deposited: | 01 Jan 2019 09:41 |
| Last Modified: | 24 Aug 2019 06:51 |
| URI: | http://eprints.iums.ac.ir/id/eprint/5893 |
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