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

(2018) A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. Molecular Neurobiology.

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Official URL: https://www.ncbi.nlm.nih.gov/pubmed/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.

Item Type: Article
Creators:
CreatorsEmail
Taghavi, S.UNSPECIFIED
Chaouni, R.UNSPECIFIED
Tafakhori, A.UNSPECIFIED
Azcona, L. J.UNSPECIFIED
Firouzabadi, S. G.UNSPECIFIED
Omrani, M. D.UNSPECIFIED
Jamshidi, J.UNSPECIFIED
Emamalizadeh, B.UNSPECIFIED
Shahidi, G. A.UNSPECIFIED
Ahmadi, M.UNSPECIFIED
Habibi, S. A. H.UNSPECIFIED
Ahmadifard, A.UNSPECIFIED
Fazeli, A.UNSPECIFIED
Motallebi, M.UNSPECIFIED
Petramfar, P.UNSPECIFIED
Askarpour, S.UNSPECIFIED
Askarpour, S.UNSPECIFIED
Shahmohammadibeni, H. A.UNSPECIFIED
Shahmohammadibeni, N.UNSPECIFIED
Eftekhari, H.UNSPECIFIED
Shafiei Zarneh, A. E.UNSPECIFIED
Mohammadihosseinabad, S.UNSPECIFIED
Khorrami, M.UNSPECIFIED
Najmi, S.UNSPECIFIED
Chitsaz, A.UNSPECIFIED
Shokraeian, P.UNSPECIFIED
Ehsanbakhsh, H.UNSPECIFIED
Rezaeidian, J.UNSPECIFIED
Ebrahimi Rad, R.UNSPECIFIED
Madadi, F.UNSPECIFIED
Andarva, M.UNSPECIFIED
Alehabib, E.UNSPECIFIED
Atakhorrami, M.UNSPECIFIED
Mortazavi, S. E.UNSPECIFIED
Azimzadeh, Z.UNSPECIFIED
Bayat, M.UNSPECIFIED
Besharati, A. M.UNSPECIFIED
Harati-Ghavi, M. A.UNSPECIFIED
Omidvari, S.UNSPECIFIED
Dehghani-Tafti, Z.UNSPECIFIED
Mohammadi, F.UNSPECIFIED
Mohammad Hossein Pour, B.UNSPECIFIED
Noorollahi Moghaddam, H.UNSPECIFIED
Esmaili Shandiz, E.UNSPECIFIED
Habibi, A.UNSPECIFIED
Taherian-Esfahani, Z.UNSPECIFIED
Darvish, H.UNSPECIFIED
Paisan-Ruiz, C.UNSPECIFIED
Keywords: Adult Amino Acid Sequence Base Sequence Exons/genetics *Family Female Humans Male Membrane Proteins/genetics Middle Aged Mutation/*genetics Parkinsonian Disorders/*genetics Phosphoric Monoester Hydrolases/genetics Protein Kinases/genetics Ubiquitin-Protein Ligases/genetics Young Adult Early-onset Genotype-phenotype correlations Parkinson's disease Pathogenic mutations
Journal index: Pubmed
Journal or Publication Title: Molecular Neurobiology
Volume: 55
Number: 4
Date: 2018
URI: http://eprints.dums.ac.ir/id/eprint/3650

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