Research ExplorerPublicationsThe role of de novo mutations in the development of amyotrop...

The role of de novo mutations in the development of amyotrophic lateral sclerosis

Standard

The role of de novo mutations in the development of amyotrophic lateral sclerosis. / van Doormaal, Perry Tc; Ticozzi, Nicola; Weishaupt, Jochen H; Kenna, Kevin; Diekstra, Frank P; Verde, Federico; Andersen, Peter M; Dekker, Annelot M; Tiloca, Cinzia; Marroquin, Nicolai; Overste, Daniel J; Pensato, Viviana; Nürnberg, Peter; Pulit, Sara L; Schellevis, Raymond D; Calini, Daniela; Altmüller, Janine; Francioli, Laurent C; Muller, Bernard; Castellotti, Barbara; Motameny, Susanne; Ratti, Antonia; Wolf, Joachim; Gellera, Cinzia; Ludolph, Albert C; van den Berg, Leonard H; Kubisch, Christian; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Volk, Alexander E.

In: HUM MUTAT, Vol. 38, No. 11, 11.2017, p. 1534-1541.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

van Doormaal, PT, Ticozzi, N, Weishaupt, JH, Kenna, K, Diekstra, FP, Verde, F, Andersen, PM, Dekker, AM, Tiloca, C, Marroquin, N, Overste, DJ, Pensato, V, Nürnberg, P, Pulit, SL, Schellevis, RD, Calini, D, Altmüller, J, Francioli, LC, Muller, B, Castellotti, B, Motameny, S, Ratti, A, Wolf, J, Gellera, C, Ludolph, AC, van den Berg, LH, Kubisch, C, Landers, JE, Veldink, JH, Silani, V & Volk, AE 2017, 'The role of de novo mutations in the development of amyotrophic lateral sclerosis', HUM MUTAT, vol. 38, no. 11, pp. 1534-1541. https://doi.org/10.1002/humu.23295

APA

van Doormaal, P. T., Ticozzi, N., Weishaupt, J. H., Kenna, K., Diekstra, F. P., Verde, F., Andersen, P. M., Dekker, A. M., Tiloca, C., Marroquin, N., Overste, D. J., Pensato, V., Nürnberg, P., Pulit, S. L., Schellevis, R. D., Calini, D., Altmüller, J., Francioli, L. C., Muller, B., ... Volk, A. E. (2017). The role of de novo mutations in the development of amyotrophic lateral sclerosis. HUM MUTAT, 38(11), 1534-1541. https://doi.org/10.1002/humu.23295

Vancouver

van Doormaal PT, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F et al. The role of de novo mutations in the development of amyotrophic lateral sclerosis. HUM MUTAT. 2017 Nov;38(11):1534-1541. https://doi.org/10.1002/humu.23295

Bibtex

@article{270c4c02f31240d6a68694f31c8ee5a0,
title = "The role of de novo mutations in the development of amyotrophic lateral sclerosis",
abstract = "The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis, however results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study we analyzed whole-exome data from 82 new patient-parents trios and combined it with the datasets of all previously published amyotrophic lateral sclerosis trios (173 trios in total). The per patient de novo rate was not higher than expected based on the general population (P = 0.40). We showed that these mutations are not part of the previously postulated pathways and gene-gene-interaction analysis found no enrichment of interacting genes in this group (P = 0.57). Also we were able to show that the de novo mutations in amyotrophic lateral sclerosis patients are located in genes already prone for de novo mutations (P < 1 × 10(-15) ). Although the individual effect of rare de novo mutations in specific genes could not be assessed, our results indicate that, in contrast to previous hypothesis, de novo mutations in general do not impose a major burden on amyotrophic lateral sclerosis risk. This article is protected by copyright. All rights reserved.",
keywords = "Journal Article",
author = "{van Doormaal}, {Perry Tc} and Nicola Ticozzi and Weishaupt, {Jochen H} and Kevin Kenna and Diekstra, {Frank P} and Federico Verde and Andersen, {Peter M} and Dekker, {Annelot M} and Cinzia Tiloca and Nicolai Marroquin and Overste, {Daniel J} and Viviana Pensato and Peter N{\"u}rnberg and Pulit, {Sara L} and Schellevis, {Raymond D} and Daniela Calini and Janine Altm{\"u}ller and Francioli, {Laurent C} and Bernard Muller and Barbara Castellotti and Susanne Motameny and Antonia Ratti and Joachim Wolf and Cinzia Gellera and Ludolph, {Albert C} and {van den Berg}, {Leonard H} and Christian Kubisch and Landers, {John E} and Veldink, {Jan H} and Vincenzo Silani and Volk, {Alexander E}",
note = "This article is protected by copyright. All rights reserved.",
year = "2017",
month = nov,
doi = "10.1002/humu.23295",
language = "English",
volume = "38",
pages = "1534--1541",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "11",

}

RIS

TY - JOUR

T1 - The role of de novo mutations in the development of amyotrophic lateral sclerosis

AU - van Doormaal, Perry Tc

AU - Ticozzi, Nicola

AU - Weishaupt, Jochen H

AU - Kenna, Kevin

AU - Diekstra, Frank P

AU - Verde, Federico

AU - Andersen, Peter M

AU - Dekker, Annelot M

AU - Tiloca, Cinzia

AU - Marroquin, Nicolai

AU - Overste, Daniel J

AU - Pensato, Viviana

AU - Nürnberg, Peter

AU - Pulit, Sara L

AU - Schellevis, Raymond D

AU - Calini, Daniela

AU - Altmüller, Janine

AU - Francioli, Laurent C

AU - Muller, Bernard

AU - Castellotti, Barbara

AU - Motameny, Susanne

AU - Ratti, Antonia

AU - Wolf, Joachim

AU - Gellera, Cinzia

AU - Ludolph, Albert C

AU - van den Berg, Leonard H

AU - Kubisch, Christian

AU - Landers, John E

AU - Veldink, Jan H

AU - Silani, Vincenzo

AU - Volk, Alexander E

N1 - This article is protected by copyright. All rights reserved.

PY - 2017/11

Y1 - 2017/11

N2 - The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis, however results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study we analyzed whole-exome data from 82 new patient-parents trios and combined it with the datasets of all previously published amyotrophic lateral sclerosis trios (173 trios in total). The per patient de novo rate was not higher than expected based on the general population (P = 0.40). We showed that these mutations are not part of the previously postulated pathways and gene-gene-interaction analysis found no enrichment of interacting genes in this group (P = 0.57). Also we were able to show that the de novo mutations in amyotrophic lateral sclerosis patients are located in genes already prone for de novo mutations (P < 1 × 10(-15) ). Although the individual effect of rare de novo mutations in specific genes could not be assessed, our results indicate that, in contrast to previous hypothesis, de novo mutations in general do not impose a major burden on amyotrophic lateral sclerosis risk. This article is protected by copyright. All rights reserved.

AB - The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis, however results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study we analyzed whole-exome data from 82 new patient-parents trios and combined it with the datasets of all previously published amyotrophic lateral sclerosis trios (173 trios in total). The per patient de novo rate was not higher than expected based on the general population (P = 0.40). We showed that these mutations are not part of the previously postulated pathways and gene-gene-interaction analysis found no enrichment of interacting genes in this group (P = 0.57). Also we were able to show that the de novo mutations in amyotrophic lateral sclerosis patients are located in genes already prone for de novo mutations (P < 1 × 10(-15) ). Although the individual effect of rare de novo mutations in specific genes could not be assessed, our results indicate that, in contrast to previous hypothesis, de novo mutations in general do not impose a major burden on amyotrophic lateral sclerosis risk. This article is protected by copyright. All rights reserved.

KW - Journal Article

U2 - 10.1002/humu.23295

DO - 10.1002/humu.23295

M3 - SCORING: Journal article

C2 - 28714244

VL - 38

SP - 1534

EP - 1541

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 11

ER -