Correction to: Human Genomics (2023) 17:55 https://doi.org/10.1186/s40246-023-00499-z
Following publication of the original article [1], the authors reported an error in Table 1. The correct Table 1 has been provided in this Correction.
Table 1.
Basic clinical and genetic characteristics of all 60 EOD patients
| ID | Diagnosis | AAO (years) | Sex | FH | APOE | Gene | Variant | Position | Transcript | CADD | ClinVar | Significance for disease |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EOD-1 | AD | 54 | f | 3 | E2/E3 | PSEN1 | c.356C > T; p.T119I | chr14:73640291-73640291 | NM_000021.3 | 24.4 | LP | Relevant for diagnosis |
| EOD-2 | bvFTD | 44 | f | 1 | E4/E3 | MAPT | c.1907C > T; p.P636L | chr17:44087755-44087755 | NM_001123066.3 | 34.0 | P | Relevant for diagnosis |
| TREM2 | c.184G > A; p.R62C | chr6:41129208-41129208 | NM_001271821.1 | 25.5 | n.r | Risk modifier | ||||||
| APOE | Risk modifier | |||||||||||
| EOD-3 | AD | 45 | f | 2 | E3/E3 | |||||||
| EOD-4 | AD | 51 | f | 4 | E4/E3 | APOE | Risk modifier | |||||
| EOD-5 | nfPPA | 58 | f | 2 | E3/E2 | |||||||
| EOD-6 | AD | 56 | f | 3 | E3/E3 | |||||||
| EOD-7 | AD/PCA | 56 | f | 4 | E3/E3 | |||||||
| EOD-8 | bvFTD | 56 | m | 4 | E3/E3 | BACE1 | c.1427T > C; p.M476T | chr11:117160361-117160361 | NM_012104.3 | 26.4 | n.r | Unknown |
| VPS13C | c.9757A > G; p.S3253G | chr15:62173781-62173781 | NM_020821.2 | 29.5 | n.r | Unknown | ||||||
| EOD-9 | AD | 55 | f | 3,5 | E4/E3 | APOE | Risk modifier | |||||
| EOD-10 | AD | 58 | f | 3,5 | E3/E3 | |||||||
| EOD-11 | AD | 63 | m | 4 | E3/E3 | |||||||
| EOD-12 | mixed dementia (AD + VD) | 55 | m | 3,5 | E4/E3 | APOE | Risk modifier | |||||
| EOD-13 | AD | 61 | m | 4,5 | E3/E3 | |||||||
| EOD-14 | AD/lpPPA | 61 | m | 4 | E4/E3 | APOE | Risk modifier | |||||
| VPS13C | c.4300C > T; p.V1434I | chr15:62244179-62244179 | NM_020821.2 | 24.8 | n.r | Unknown | ||||||
| EOD-15 | nfPPA | 64 | m | 2 | E3/E3 | DCTN1 | c.2218C > T; p.E740K | chr2:74594514-74594514 | NM_004082.4 | 24.0 | n.r | Unknown |
| EOD-16 | AD | 56 | f | 4 | E3/E3 | |||||||
| EOD-17 | AD (PD) | 60 | m | 1 | E4/E3 | APOE | Risk modifier | |||||
| MAPK8IP3 | g.chr16:1816528 A > G; c.2817-2A > G | chr16:1816528-1816528 | NM_015133.3 | 22.3 | n.r | Unknown | ||||||
| EOD-18a | AD | 47 | m | 4 | E3/E3 | APP | g.chr.21:(?_26958019)-(27852747_?)dup | P | Relevant for diagnosis | |||
| ABCA7 | c.2914C > T; p.P972S | chr19:1051537-1051537 | NM_019112.3 | 25.3 | n.r | Potential risk modifier | ||||||
| EOD-19 | AD | 51 | m | 1 | E3/E3 | APP | g.chr.21:(?_27253981)-(27542937_?)dup | P | Relevant for diagnosis | |||
| EOD-19 (2)b | AD | 47 | m | 1 | E3/E3 | APP | g.chr.21:(?_27253981)-(27542937_?)dup | P | Relevant for diagnosis | |||
| EOD-20 | AD | 57 | m | 4,5 | E3/E3 | LRRK2 | c.7397T > A; p.L2466H | chr12:40760814-40760814 | NM_198578.3 | 25.7 | VUS | Unknown |
| EOD-21 | CAA | 54 | m | 3,5 | E4/E4 | APOE | Relevant for diagnosis | |||||
| EOD-22 | AD | 49 | m | 4 | E4/E4 | APOE | Relevant for diagnosis | |||||
| EOD-23 | AD | 36 | f | 1 | E3/E3 | PSEN1 | c.617G > A; p.G206D | chr14:73659420-73659420 | NM_000021.3 | 31.0 | P | Relevant for diagnosis |
| EOD-24 | AD | 53 | m | 3,5 | E4/E4 | APOE | Relevant for diagnosis | |||||
| EOD-25 | AD | 51 | f | 3,5 | E4/E4 | APOE | Relevant for diagnosis | |||||
| EOD-26 | AD | 56 | f | 4 | E3/E3 | DCTN1 | c.2980G > C; p.P994A | chr2:74590268-74590268 | NM_023019.3 | 17.3 | VUS | Unknown |
| MAPK8IP3 | c.2087G > A; p.R696H | chr16:1814180-1814180 | NM_015133.3 | 31.0 | n.r | Unknown | ||||||
| EOD-27 | AD | 57 | f | 4 | E4/E3 | APOE | Risk modifier | |||||
| EOD-28 | AD | 54 | m | 4 | E3/E3 | |||||||
| EOD-29 | AD | 54 | m | 4 | E3/E3 | |||||||
| EOD-30 | AD | 64 | m | 4 | E3/E3 | |||||||
| EOD-31 | mixed dementia (AD + VD) | 58 | m | 3,5 | E3/E3 | |||||||
| EOD-32 | FTD/svPPA | 61 | m | 4 | E3/E3 | |||||||
| EOD-33 | AD | 62 | f | 4,5 | E4/E3 | APOE | Risk modifier | |||||
| DCTN1 | c.521G > A; p.S174L | chr2:74598788-74598788 | NM_004082.4 | 24.4 | VUS | Unknown | ||||||
| EOD-34 | AD | 59 | f | 2 | E4/E3 | APOE | Risk modifier | |||||
| EOD-35 | AD | 55 | m | 3,5 | E4/E3 | APOE | Risk modifier | |||||
| EOD-36c | AD | 64 | m | 2 | E4/E3 | TREM2 | c.140G > A; p.R47H | chr6:41129252-41129252 | NM_018965.3 | 9.7 | LB | Risk modifier |
| APOE | Risk modifier | |||||||||||
| EOD-37 | AD | 52 | f | 3,5 | E3/E3 | LRRK2 | c.7397T > A; p.L2466H | chr12:40760814-40760814 | NM_198578.3 | 25.7 | VUS | Unknown |
| EOD-38 | AD | 52 | f | 3,5 | E4/E3 | APOE | Risk modifier | |||||
| EOD-39 | AD | 63 | f | 3 | E4/E3 | APOE | Risk modifier | |||||
| EOD-40 | AD | 55 | f | 4 | E4/E3 | APOE | Risk modifier | |||||
| EOD-41 | AD | 58 | m | 3,5 | E3/E3 | |||||||
| EOD-42 | AD | 39 | m | 4 | E3/E2 | |||||||
| EOD-43 | AD | 63 | m | 4 | E3/E3 | VPS13C | c.3148A > G; p.I1050V | chr15:62256964-62256964 | NM_020821.2 | 0.001 | VUS | Unknown |
| EOD-44 | AD/lpPPA | 58 | f | 3,5 | E3/E3 | SORL1 | c.3014T > G; p.M1005R | chr11:121430331-121430331 | NM_003105.5 | 27.9 | n.r | Potential risk modifier |
| EOD-45 | AD | 65 | m | 4 | E3/E3 | |||||||
| EOD-46 | CBS + AD | 51 | f | 3,5 | E3/E3 | SORL1 | c.4606G > A; p.G1536S | chr11:121474988-121474988 | NM_003105.5 | 25.2 | B | Risk modifier |
| EOD-47 | AD | 54 | f | 4 | E3/E3 | |||||||
| EOD-48 | bvFTD | 57 | m | 4 | E3/E3 | |||||||
| EOD-49 | FTD/nfPPA + ALS | 58 | m | 4 | E3/E3 | TBK1 | c.986T > C; p.L276P | chr12:64875636-64875636 | NM_013254.3 | n.r | Potential risk modifier | |
| VPS13C | c.7436T > C; p.I2429T | chr15:62212307-62212307 | NM_020821.2 | n.r | Unknown | |||||||
| EOD-50 | FTD (bvFTD + nfPPA) | 55 | f | 3,5 | E4/E3 | PGRN | c.328C > T; p.R110* | chr17:42427098-42427098 | NM_002087.3 | 29.4 | P | Relevant for diagnosis |
| APOE | Risk modifier | |||||||||||
| EOD-51 | FTD/svPPA | 62 | f | 4 | E3/E3 | |||||||
| EOD-52 | AD | 57 | m | 4 | E4/E3 | APOE | Risk modifier | |||||
| EOD-53 | AD | 57 | m | 4 | E4/E4 | APOE | Relevant for diagnosis | |||||
| LRRK2 | c.7377G > A; p.M2459I | chr12:40758839-40758839 | NM_198578.3 | 17.7 | n.r | Unknown | ||||||
| EOD-54 | AD | 59 | m | 1 | E4/E3 | APOE | Risk modifier | |||||
| EOD-55 | AD | 49 | m | 4 | E3/E3 | |||||||
| EOD-56 | AD | 61 | m | 3,5 | E3/E3 | |||||||
| EOD-57 | AD/lpPPA | 57 | f | 4 | E3/E3 | |||||||
| EOD-58 | AD + VD | 64 | f | 3 | E3/E3 | DCTN1 | c.823C > T; p.R141C | chr2:74598126-74598126 | NM_004082.3 | 29.3 | VUS | Unknown |
| EOD-59 | bvFTD | 52 | m | 4 | E4/E3 | APOE | Risk modifier | |||||
| EOD-60 | AD | 49 | f | 3 | E3/E3 | APP | c.2092G > A; p.V586I | chr21:27264096 | NM_201413.3 | 28.2 | P | Relevant for diagnosis |
a, EOD-18: The APP duplication of was confirmed to be 'de novo'. Both parents did not show this duplication
b, EOD-19 (2) is the brother of EOD19. He was also affected by AD and carrier of the same duplication. EOD 19 (2) was not included in the analyses of AAO and FH
c, EOD-36: ClinVar assessment of TREM2 p.R47H of LB (likely benign) refers to Nasu-Hakola disease. However, p.R47H is an established risk variant for dementia (Ref. 15)
The original article [1] has been corrected.
Footnotes
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Sara Silvaieh and Theresa König have contributed equally to this work.
Reference
- 1.Silvaieh S, König T, Wurm R, et al. Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes. Hum Genom. 2023;17:55. doi: 10.1186/s40246-023-00499-z. [DOI] [PMC free article] [PubMed] [Google Scholar]