Journal article
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations
Molecular neurobiology, Vol.55(4), pp.3477-3489
04/01/2018
DOI: 10.1007/s12035-017-0535-1
PMCID: PMC5683945
PMID: 28502045
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.
Details
- Title: Subtitle
- A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations
- Creators
- Shaghayegh Taghavi - Shahid Beheshti University of Medical SciencesRita Chaouni - Icahn School of Medicine at Mount SinaiAbbas Tafakhori - Imam Khomeini HospitalLuis J Azcona - Icahn School of Medicine at Mount SinaiSaghar Ghasemi Firouzabadi - University of Social Welfare and Rehabilitation SciencesMir Davood Omrani - Shahid Beheshti University of Medical SciencesJavad Jamshidi - Fasa University of Medical SciencesBabak Emamalizadeh - Tabriz University of Medical SciencesGholam Ali Shahidi - Iran University of Medical SciencesMona Ahmadi - Tehran University of Medical SciencesSeyed Amir Hassan Habibi - Iran University of Medical SciencesAzadeh Ahmadifard - Shahid Beheshti University of Medical SciencesAtena Fazeli - Shahid Beheshti University of Medical SciencesMarzieh Motallebi - Shahid Beheshti University of Medical SciencesPeyman Petramfar - Shiraz University of Medical SciencesSaeed Askarpour - Shahid Beheshti University of Medical SciencesShiva Askarpour - Shiraz University of Medical SciencesHossein Ali Shahmohammadibeni - Neurology Department, Jondi-Shapoor University of Medical Sciences, Ahwaz, IranNeda Shahmohammadibeni - Babol University of Medical SciencesHajar Eftekhari - Babol University of Medical SciencesAmir Ehtesham Shafiei Zarneh - Shahid Beheshti University of Medical SciencesSaeed Mohammadihosseinabad - Shahid Beheshti University of Medical SciencesMehdi Khorrami - Shahid Beheshti University of Medical SciencesSafa Najmi - University of TabrizAhmad Chitsaz - Isfahan University of Medical SciencesParasto Shokraeian - Islamic Azad University Medical Branch of TehranHossein Ehsanbakhsh - Shahid Beheshti University of Medical SciencesJalal Rezaeidian - Shahid Beheshti University of Medical SciencesReza Ebrahimi Rad - Islamic Azad University TonekabonFaranak Madadi - Shahid Beheshti University of Medical SciencesMonavvar Andarva - Shahid Beheshti University of Medical SciencesElham Alehabib - Shahid Beheshti University of Medical SciencesMinoo Atakhorrami - Shahid Beheshti University of Medical SciencesSeyed Erfan Mortazavi - Shahid Beheshti University of Medical SciencesZahra Azimzadeh - Shahid Beheshti University of Medical SciencesMahdis Bayat - Shahid Beheshti University of Medical SciencesAmir Mohammad Besharati - Shahid Beheshti University of Medical SciencesMohammad Ali Harati-Ghavi - Shahid Beheshti University of Medical SciencesSamareh Omidvari - Shahid Beheshti University of Medical SciencesZahra Dehghani-Tafti - Shahid Beheshti University of Medical SciencesFaraz Mohammadi - Shahid Beheshti University of Medical SciencesBanafsheh Mohammad Hossein Pour - Shahid Beheshti University of Medical SciencesHamid Noorollahi Moghaddam - Toos General Hospital, Tehran, IranEhsan Esmaili Shandiz - Dezful University of Medical SciencesArman Habibi - Iran University of Medical SciencesZahra Taherian-Esfahani - Shahid Beheshti University of Medical SciencesHossein Darvish - Shahid Beheshti University of Medical SciencesCoro Paisán-Ruiz - Icahn School of Medicine at Mount Sinai
- Resource Type
- Journal article
- Publication Details
- Molecular neurobiology, Vol.55(4), pp.3477-3489
- DOI
- 10.1007/s12035-017-0535-1
- PMID
- 28502045
- PMCID
- PMC5683945
- NLM abbreviation
- Mol Neurobiol
- ISSN
- 0893-7648
- eISSN
- 1559-1182
- Grant note
- R01NS079388 / National Institute of Neurological Disorders and Stroke 16-0632-APDA / American Parkinson Disease Association R01 NS079388 / NINDS NIH HHS
- Language
- English
- Date published
- 04/01/2018
- Academic Unit
- Neurology
- Record Identifier
- 9985014707602771
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