Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia
| Autor: | Sheng-Di Chen, Ru-Jing Ren, Qian-Hua Zhao, Xiang-Qian Che, Yue Huang, Qihao Guo, Xia Li, Gang Wang |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male China Heterozygote Genotyping Techniques Chromosome 9 tau Proteins Gene mutation Biology Cohort Studies Mitochondrial Proteins 03 medical and health sciences 0302 clinical medicine Progranulins Asian People C9orf72 mental disorders medicine Humans Gene Genetic Association Studies Genetic testing Genetics medicine.diagnostic_test C9orf72 Protein C9orf72 Gene Middle Aged medicine.disease 030104 developmental biology Neurology Frontotemporal Dementia Mutation Intercellular Signaling Peptides and Proteins Female Neurology (clinical) Trinucleotide repeat expansion 030217 neurology & neurosurgery Frontotemporal dementia |
| Zdroj: | Current Alzheimer research. 14(10) |
| ISSN: | 1875-5828 |
| Popis: | Background Mutations in microtubule associated protein tau (MAPT), progranulin (GRN), chromosome 9 open-reading frame 72 (C9orf72) and CHCHD10 genes have been reported causing frontotemporal dementia (FTD) in different populations. However, collective analysis of mutations in these four genes in Chinese FTD patients has not been reported yet. Methods The aim of this study was to investigate the genetic features of Chinese patients with MAPT, GRN, C9orf72 or CHCHD10 gene mutations in an FTD cohort recruited from multi clinical centers in Shanghai metropolitan areas, China. MAPT, GRN and CHCHD10 genes were analysed by direct sequencing, and C9orf72 hexanucleotide repeat expansion was analysed by repeat-primed PCR in 82 patients with sporadic FTD. The identified gene variants were screened in 400 age matched controls. Results We found one known pathogenic variant (rs63750959) and one novel mutation (NG_007398.1: g.120962C>T; H299Y) of MAPT gene, one novel variant (c.750C>A; D250E) of GRN gene and two novel mutations in CHCHD10 gene (c.63C>T, no AA change; c.71G>A, P24L). No abnormal C9orf72 gene hexanucleotide repeat expansion was identified in this cohort. Collectively, genetic testing could discover 4.9% sporadic FTD patients with genetic causes. In addition, MAPT and CHCHD10 might be more important genes affecting Chinese with FTD. |
| Databáze: | OpenAIRE |
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