A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

Taghavi, Shaghayegh and Chaouni, Rita and Tafakhori, Abbas and Azcona, Luis J and Firouzabadi, Saghar Ghasemi and Omrani, Mir Davood and Jamshidi, Javad and Emamalizadeh, Babak and Shahidi, Gholam Ali and Ahmadi, Mona and Habibi, Seyed Amir Hassan and Ahmadifard, Azadeh and Fazeli, Atena and Motallebi, Marzieh and Petramfar, Peyman and Askarpour, Saeed and Askarpour, Shiva and Shahmohammadibeni, Hossein Ali and Shahmohammadibeni, Neda and Eftekhari, Hajar and Shafiei Zarneh, Amir Ehtesham and Mohammadihosseinabad, Saeed and Khorrami, Mehdi and Najmi, Safa and Chitsaz, Ahmad and Shokraeian, Parasto and Ehsanbakhsh, Hossein and Rezaeidian, Jalal and Ebrahimi Rad, Reza and Madadi, Faranak and Andarva, Monavvar and Alehabib, Elham and Atakhorrami, Minoo and Mortazavi, Seyed Erfan and Azimzadeh, Zahra and Bayat, Mahdis and Besharati, Amir Mohammad and Harati-Ghavi, Mohammad Ali and Omidvari, Samareh and Dehghani-Tafti, Zahra and Mohammadi, Faraz and Mohammad Hossein Pour, Banafsheh and Noorollahi Moghaddam, Hamid and Esmaili Shandiz, Ehsan and Habibi, Arman and Taherian-Esfahani, Zahra and Darvish, Hossein and Paisán-Ruiz, Coro (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. ISSN 1559-1182

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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.

Item Type: Article
Depositing User: Unnamed user with email eprints@fums.ac.ir
Date Deposited: 22 May 2018 04:34
Last Modified: 22 May 2018 04:34
URI: http://eprints.fums.ac.ir/id/eprint/2108

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