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In silico study for neurodegenerative diseases diagnosis: A novel gene panel
Author(s) -
Nguyen Thuy Trang,
Vo Tuong Kha,
Vo Van Giau
Publication year - 2020
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1002/alz.037112
Subject(s) - amyotrophic lateral sclerosis , frontotemporal dementia , disease , exome sequencing , dementia , neurodegeneration , genetics , omim : online mendelian inheritance in man , gene , exome , medicine , biology , phenotype , bioinformatics , pathology
Background Genetic factors are central to the etiology of neurodegeneration, both as monogenic causes of heritable disease and as modifiers of susceptibility to complex, sporadic disorders. Extensive analyses of known the monogenic causes of neurodegenerative diseases by whole‐exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of neurodegenerative diseases (NDs) for use in clinical and research situations. Method We systematically searched the publicly available database Online Mendelian Inheritance in Man, and validated the entries against original peer‐reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with the disorders. Then, the diseases phenotype was classified based on each gene into eight subgroups: (1) Alzheimer disease (AD), (2) Parkinson disease (PD), (3) Lewy body dementia (LBD), (4) frontotemporal dementia (FTD), (5) amyotrophic lateral sclerosis (ALS), (6) Huntington disease (HD), (7) prion diseases and other genes related to brain disorders, but without any documented the patient description. Result We identified in total 177 genes: 45 associated with AD, 29 associated with PD, 25 associated with LBD, 24 associated with FTD, 23 associated with ALS, 10 associated with HD, 1 may cause prion diseases, and 20 other‐related genes from uncleared brain disorders. We described these 177 genes and the clinical NDs subtype(s) associated with each of them. The resulting gene panel can be used to interpret exome sequencing results regarding monogenic NDs. Conclusion The genetic testing panel is applicable to NPs clinical areas and has important implications for family testing.