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Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing
Bin Jiang, Jiong Zhou, Hong-Lei Li, Yan-Gui Chen, Hong-Rong Cheng, Ling-Qi Ye, De-Shan Liu, Dian-Fu Chen et al.. Neurobiology of aging, 2018-12-06
Topic: Genetics and APOE
Familial Alzheimer's disease (FAD) is characterized by a positive family history of dementia and typically occurs at an early age with an autosomal dominant pattern of inheritance. Amyloid precursor protein (APP), presenilin1 (PSEN1), and presenilin2 (PSEN2) are the major causative genes of FAD. The spectrum of mutations in patients with FAD has been investigated extensively in the Caucasian population but rarely in the Chinese population. Here, we performed whole-exome sequencing in a total of 15 unrelated Chinese patients with FAD. Among them, 12 were found to carry missense variants in APP, PSEN1, and PSEN2. Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified. The novel variant APP p.K687Q was classified as likely pathogenic, and the other 4 variants (APP: p.D244G, p.T297M, p.D332G; PSEN1: p.R157S) were classified as uncertain significance. Therefore, APP, PSEN1, and PSEN2 mutations account for 2 (25.0%), 5 (62.5%), and 1 (12.5%) of the genotyped cases positive for mutations, respectively. Furthermore, the genotype-phenotype correlations were described. Our findings broaden the genetic spectrum of FAD with APP, PSEN1, and PSEN2 variants.
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APA 7th
Jiang, B., Zhou, J., Li, H.-L., Chen, Y.-G., Cheng, H.-R., Ye, L.-Q., et al. (2019). Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2018.11.024
Vancouver
Jiang B, Zhou J, Li H.-L, Chen Y.-G, Cheng H.-R, Ye L.-Q, et al. Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing. Neurobiology of aging. 2019. doi:10.1016/j.neurobiolaging.2018.11.024. PMID: 30598257.
BibTeX
@article{jiang2019-30598257,
author = {Jiang, Bin and Zhou, Jiong and Li, Hong-Lei and Chen, Yan-Gui and Cheng, Hong-Rong and Ye, Ling-Qi and Liu, De-Shan and Chen, Dian-Fu and others},
title = {{Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing}},
journal = {Neurobiology of aging},
year = {2019},
doi = {10.1016/j.neurobiolaging.2018.11.024},
pmid = {30598257},
url = {https://doi.org/10.1016/j.neurobiolaging.2018.11.024}
}
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Key findings
- Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
- Our findings broaden the genetic spectrum of FAD with APP, PSEN1, and PSEN2 variants.
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Study details
- Participants15
- Effect size25.0%; 62.5%; 12.5%
- Evidence strengthLow
How this study scored 50/100
Published in a peer-reviewed journal. Scored zero for study design and randomized / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multicenter collaboration and free to read, so those were left out: it earned 28 of the 56 points we could judge it on, which is 50 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 2 / 5 | 2019 — within 10 year(s) of the newest study here |
| Sample size | 1 / 4 | 15 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multicenter collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30598257) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 28 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 28 of the 56 points we could judge it on is 50 out of 100. |
| Total | 50 / 100 | — |
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