Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z)

Sara Silvaieh; Theresa König; Raphael Wurm; Tandis Parvizi; Evelyn Berger-Sieczkowski; Stella Goeschl; Christoph Hotzy; Matias Wagner; Riccardo Berutti; Esther Sammler; Elisabeth Stögmann; Alexander Zimprich

doi:10.1186/s40246-023-00525-0

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z)

Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger-Sieczkowski, Stella Goeschl, Christoph Hotzy, Matias Wagner, Riccardo Berutti, Esther Sammler, Elisabeth Stögmann (Lead / Corresponding author), Alexander Zimprich

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Abstract

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 presented.) 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 EOD-2 c.184G > A; p.R62C chr6:41129208-41129208 NM_001271821.1 25.5 n.r Risk modifier Risk modifier EOD-3 AD 45 f 2 E3/E3 EOD-4 AD 51 f 4 E4/E3 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 c.1427T > C; p.M476T chr11:117160361-117160361 NM_012104.3 26.4 n.r Unknown 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 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 Risk modifier EOD-13 AD 61 m 4,5 E3/E3 EOD-14 AD/lpPPA 61 m 4 E4/E3 Risk modifier c.4300C > T; p.V1434I chr15:62244179-62244179 NM_020821.2 24.8 n.r Unknown EOD-15 nfPPA 64 m 2 E3/E3 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 Risk modifier g.chr16:1816528 A > G; c.2817-2A > G chr16:1816528-1816528 NM_015133.3 22.3 n.r Unknown EOD-18^a c.2914C > T; p.P972S chr19:1051537-1051537 NM_019112.3 25.3 n.r Potential risk modifier EOD-19 EOD-19 (2)^b EOD-20 AD 57 m 4,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-21 EOD-22 EOD-23 EOD-24 EOD-25 EOD-26 AD 56 f 4 E3/E3 c.2980G > C; p.P994A chr2:74590268-74590268 NM_023019.3 17.3 VUS Unknown c.2087G > A; p.R696H chr16:1814180-1814180 NM_015133.3 31.0 n.r Unknown EOD-27 AD 57 f 4 E4/E3 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 Risk modifier c.521G > A; p.S174L chr2:74598788-74598788 NM_004082.4 24.4 VUS Unknown EOD-34 AD 59 f 2 E4/E3 Risk modifier EOD-35 AD 55 m 3,5 E4/E3 Risk modifier EOD-36^c AD 64 m 2 E4/E3 c.140G > A; p.R47H chr6:41129252-41129252 NM_018965.3 9.7 LB Risk modifier Risk modifier EOD-37 AD 52 f 3,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-38 AD 52 f 3,5 E4/E3 Risk modifier EOD-39 AD 63 f 3 E4/E3 Risk modifier EOD-40 AD 55 f 4 E4/E3 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 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 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 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 c.986T > C; p.L276P chr12:64875636-64875636 NM_013254.3 n.r Potential risk modifier c.7436T > C; p.I2429T chr15:62212307-62212307 NM_020821.2 n.r Unknown EOD-50 Risk modifier EOD-51 FTD/svPPA 62 f 4 E3/E3 EOD-52 AD 57 m 4 E4/E3 Risk modifier EOD-53 c.7377G > A; p.M2459I chr12:40758839-40758839 NM_198578.3 17.7 n.r Unknown EOD-54 AD 59 m 1 E4/E3 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 c.823C > T; p.R141C chr2:74598126-74598126 NM_004082.3 29.3 VUS Unknown EOD-59 bvFTD 52 m 4 E4/E3 Risk modifier EOD-60 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.

Original language	English
Article number	79
Pages (from-to)	1-5
Number of pages	5
Journal	Human genomics
Volume	17
DOIs	https://doi.org/10.1186/s40246-023-00525-0
Publication status	Published - 28 Aug 2023

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Molecular Biology
Genetics
Drug Discovery

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Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Silvaieh, S., König, T., Wurm, R., Parvizi, T., Berger-Sieczkowski, E., Goeschl, S., Hotzy, C., Wagner, M., Berutti, R., Sammler, E., Stögmann, E. & Zimprich, A., 17 Jun 2023, In: Human genomics. 17, 15 p., 55.
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Silvaieh, S., König, T., Wurm, R., Parvizi, T., Berger-Sieczkowski, E., Goeschl, S., Hotzy, C., Wagner, M., Berutti, R., Sammler, E., Stögmann, E., & Zimprich, A. (2023). Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z). Human genomics, 17, 1-5. Article 79. https://doi.org/10.1186/s40246-023-00525-0

@article{183848e4e5b94bb2b4a68a9a908fd3ee,

title = "Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z)",

abstract = "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 presented.) 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 EOD-2 c.184G > A; p.R62C chr6:41129208-41129208 NM_001271821.1 25.5 n.r Risk modifier Risk modifier EOD-3 AD 45 f 2 E3/E3 EOD-4 AD 51 f 4 E4/E3 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 c.1427T > C; p.M476T chr11:117160361-117160361 NM_012104.3 26.4 n.r Unknown 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 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 Risk modifier EOD-13 AD 61 m 4,5 E3/E3 EOD-14 AD/lpPPA 61 m 4 E4/E3 Risk modifier c.4300C > T; p.V1434I chr15:62244179-62244179 NM_020821.2 24.8 n.r Unknown EOD-15 nfPPA 64 m 2 E3/E3 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 Risk modifier g.chr16:1816528 A > G; c.2817-2A > G chr16:1816528-1816528 NM_015133.3 22.3 n.r Unknown EOD-18a c.2914C > T; p.P972S chr19:1051537-1051537 NM_019112.3 25.3 n.r Potential risk modifier EOD-19 EOD-19 (2)b EOD-20 AD 57 m 4,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-21 EOD-22 EOD-23 EOD-24 EOD-25 EOD-26 AD 56 f 4 E3/E3 c.2980G > C; p.P994A chr2:74590268-74590268 NM_023019.3 17.3 VUS Unknown c.2087G > A; p.R696H chr16:1814180-1814180 NM_015133.3 31.0 n.r Unknown EOD-27 AD 57 f 4 E4/E3 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 Risk modifier c.521G > A; p.S174L chr2:74598788-74598788 NM_004082.4 24.4 VUS Unknown EOD-34 AD 59 f 2 E4/E3 Risk modifier EOD-35 AD 55 m 3,5 E4/E3 Risk modifier EOD-36c AD 64 m 2 E4/E3 c.140G > A; p.R47H chr6:41129252-41129252 NM_018965.3 9.7 LB Risk modifier Risk modifier EOD-37 AD 52 f 3,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-38 AD 52 f 3,5 E4/E3 Risk modifier EOD-39 AD 63 f 3 E4/E3 Risk modifier EOD-40 AD 55 f 4 E4/E3 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 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 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 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 c.986T > C; p.L276P chr12:64875636-64875636 NM_013254.3 n.r Potential risk modifier c.7436T > C; p.I2429T chr15:62212307-62212307 NM_020821.2 n.r Unknown EOD-50 Risk modifier EOD-51 FTD/svPPA 62 f 4 E3/E3 EOD-52 AD 57 m 4 E4/E3 Risk modifier EOD-53 c.7377G > A; p.M2459I chr12:40758839-40758839 NM_198578.3 17.7 n.r Unknown EOD-54 AD 59 m 1 E4/E3 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 c.823C > T; p.R141C chr2:74598126-74598126 NM_004082.3 29.3 VUS Unknown EOD-59 bvFTD 52 m 4 E4/E3 Risk modifier EOD-60 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.",

author = "Sara Silvaieh and Theresa K{\"o}nig and Raphael Wurm and Tandis Parvizi and Evelyn Berger-Sieczkowski and Stella Goeschl and Christoph Hotzy and Matias Wagner and Riccardo Berutti and Esther Sammler and Elisabeth St{\"o}gmann and Alexander Zimprich",

note = "Publisher Copyright: {\textcopyright} 2023, BioMed Central Ltd., part of Springer Nature.",

year = "2023",

month = aug,

day = "28",

doi = "10.1186/s40246-023-00525-0",

language = "English",

volume = "17",

pages = "1--5",

}

Silvaieh, S, König, T, Wurm, R, Parvizi, T, Berger-Sieczkowski, E, Goeschl, S, Hotzy, C, Wagner, M, Berutti, R, Sammler, E, Stögmann, E & Zimprich, A 2023, 'Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z)', Human genomics, vol. 17, 79, pp. 1-5. https://doi.org/10.1186/s40246-023-00525-0

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z). / Silvaieh, Sara; König, Theresa; Wurm, Raphael et al.
In: Human genomics, Vol. 17, 79, 28.08.2023, p. 1-5.

Research output: Contribution to journal › Comment/debate › peer-review

TY - JOUR

T1 - Correction

T2 - Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z)

AU - Silvaieh, Sara

AU - König, Theresa

AU - Wurm, Raphael

AU - Parvizi, Tandis

AU - Berger-Sieczkowski, Evelyn

AU - Goeschl, Stella

AU - Hotzy, Christoph

AU - Wagner, Matias

AU - Berutti, Riccardo

AU - Sammler, Esther

AU - Stögmann, Elisabeth

AU - Zimprich, Alexander

PY - 2023/8/28

Y1 - 2023/8/28

N2 - 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 presented.) 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 EOD-2 c.184G > A; p.R62C chr6:41129208-41129208 NM_001271821.1 25.5 n.r Risk modifier Risk modifier EOD-3 AD 45 f 2 E3/E3 EOD-4 AD 51 f 4 E4/E3 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 c.1427T > C; p.M476T chr11:117160361-117160361 NM_012104.3 26.4 n.r Unknown 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 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 Risk modifier EOD-13 AD 61 m 4,5 E3/E3 EOD-14 AD/lpPPA 61 m 4 E4/E3 Risk modifier c.4300C > T; p.V1434I chr15:62244179-62244179 NM_020821.2 24.8 n.r Unknown EOD-15 nfPPA 64 m 2 E3/E3 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 Risk modifier g.chr16:1816528 A > G; c.2817-2A > G chr16:1816528-1816528 NM_015133.3 22.3 n.r Unknown EOD-18a c.2914C > T; p.P972S chr19:1051537-1051537 NM_019112.3 25.3 n.r Potential risk modifier EOD-19 EOD-19 (2)b EOD-20 AD 57 m 4,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-21 EOD-22 EOD-23 EOD-24 EOD-25 EOD-26 AD 56 f 4 E3/E3 c.2980G > C; p.P994A chr2:74590268-74590268 NM_023019.3 17.3 VUS Unknown c.2087G > A; p.R696H chr16:1814180-1814180 NM_015133.3 31.0 n.r Unknown EOD-27 AD 57 f 4 E4/E3 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 Risk modifier c.521G > A; p.S174L chr2:74598788-74598788 NM_004082.4 24.4 VUS Unknown EOD-34 AD 59 f 2 E4/E3 Risk modifier EOD-35 AD 55 m 3,5 E4/E3 Risk modifier EOD-36c AD 64 m 2 E4/E3 c.140G > A; p.R47H chr6:41129252-41129252 NM_018965.3 9.7 LB Risk modifier Risk modifier EOD-37 AD 52 f 3,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-38 AD 52 f 3,5 E4/E3 Risk modifier EOD-39 AD 63 f 3 E4/E3 Risk modifier EOD-40 AD 55 f 4 E4/E3 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 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 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 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 c.986T > C; p.L276P chr12:64875636-64875636 NM_013254.3 n.r Potential risk modifier c.7436T > C; p.I2429T chr15:62212307-62212307 NM_020821.2 n.r Unknown EOD-50 Risk modifier EOD-51 FTD/svPPA 62 f 4 E3/E3 EOD-52 AD 57 m 4 E4/E3 Risk modifier EOD-53 c.7377G > A; p.M2459I chr12:40758839-40758839 NM_198578.3 17.7 n.r Unknown EOD-54 AD 59 m 1 E4/E3 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 c.823C > T; p.R141C chr2:74598126-74598126 NM_004082.3 29.3 VUS Unknown EOD-59 bvFTD 52 m 4 E4/E3 Risk modifier EOD-60 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.

AB - 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 presented.) 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 EOD-2 c.184G > A; p.R62C chr6:41129208-41129208 NM_001271821.1 25.5 n.r Risk modifier Risk modifier EOD-3 AD 45 f 2 E3/E3 EOD-4 AD 51 f 4 E4/E3 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 c.1427T > C; p.M476T chr11:117160361-117160361 NM_012104.3 26.4 n.r Unknown 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 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 Risk modifier EOD-13 AD 61 m 4,5 E3/E3 EOD-14 AD/lpPPA 61 m 4 E4/E3 Risk modifier c.4300C > T; p.V1434I chr15:62244179-62244179 NM_020821.2 24.8 n.r Unknown EOD-15 nfPPA 64 m 2 E3/E3 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 Risk modifier g.chr16:1816528 A > G; c.2817-2A > G chr16:1816528-1816528 NM_015133.3 22.3 n.r Unknown EOD-18a c.2914C > T; p.P972S chr19:1051537-1051537 NM_019112.3 25.3 n.r Potential risk modifier EOD-19 EOD-19 (2)b EOD-20 AD 57 m 4,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-21 EOD-22 EOD-23 EOD-24 EOD-25 EOD-26 AD 56 f 4 E3/E3 c.2980G > C; p.P994A chr2:74590268-74590268 NM_023019.3 17.3 VUS Unknown c.2087G > A; p.R696H chr16:1814180-1814180 NM_015133.3 31.0 n.r Unknown EOD-27 AD 57 f 4 E4/E3 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 Risk modifier c.521G > A; p.S174L chr2:74598788-74598788 NM_004082.4 24.4 VUS Unknown EOD-34 AD 59 f 2 E4/E3 Risk modifier EOD-35 AD 55 m 3,5 E4/E3 Risk modifier EOD-36c AD 64 m 2 E4/E3 c.140G > A; p.R47H chr6:41129252-41129252 NM_018965.3 9.7 LB Risk modifier Risk modifier EOD-37 AD 52 f 3,5 E3/E3 c.7397T > A; p.L2466H chr12:40760814-40760814 NM_198578.3 25.7 VUS Unknown EOD-38 AD 52 f 3,5 E4/E3 Risk modifier EOD-39 AD 63 f 3 E4/E3 Risk modifier EOD-40 AD 55 f 4 E4/E3 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 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 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 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 c.986T > C; p.L276P chr12:64875636-64875636 NM_013254.3 n.r Potential risk modifier c.7436T > C; p.I2429T chr15:62212307-62212307 NM_020821.2 n.r Unknown EOD-50 Risk modifier EOD-51 FTD/svPPA 62 f 4 E3/E3 EOD-52 AD 57 m 4 E4/E3 Risk modifier EOD-53 c.7377G > A; p.M2459I chr12:40758839-40758839 NM_198578.3 17.7 n.r Unknown EOD-54 AD 59 m 1 E4/E3 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 c.823C > T; p.R141C chr2:74598126-74598126 NM_004082.3 29.3 VUS Unknown EOD-59 bvFTD 52 m 4 E4/E3 Risk modifier EOD-60 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.

UR - http://www.scopus.com/inward/record.url?scp=85168784110&partnerID=8YFLogxK

U2 - 10.1186/s40246-023-00525-0

DO - 10.1186/s40246-023-00525-0

M3 - Comment/debate

C2 - 37635234

AN - SCOPUS:85168784110

SN - 1473-9542

VL - 17

SP - 1

EP - 5

JO - Human genomics

JF - Human genomics

M1 - 79

ER -

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes (Human Genomics, (2023), 17, 1, (55), 10.1186/s40246-023-00499-z)

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Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

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