SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Dimitra Micha; Dong-Chuan Guo; Yvonne Hilhorst-Hofstee; Fop van Kooten; Dian Atmaja; Eline Overwater; Ferdy K. Cayami; Ellen S. Regalado; René van Uffelen; Hanka Venselaar; Sultana M. H. Faradz; Gerrit Vriend; Marjan M. Weiss; Erik A. Sistermans; Alessandra Maugeri; Dianna M. Milewicz; Gerard Pals; Fleur S. van Dijk

doi:https://doi.org/10.1002/humu.22854

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Dimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy K. Cayami, Ellen S. Regalado, René van Uffelen, Hanka Venselaar, Sultana M. H. Faradz, Gerrit Vriend, Marjan M. Weiss, Erik A. Sistermans, Alessandra Maugeri, Dianna M. Milewicz, Gerard Pals, Fleur S. van Dijk

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF-β signaling pathway exhibit arterial aneurysms and dissections as key features

Original language	English
Pages (from-to)	1145-1149
Journal	Human mutation
Volume	36
Issue number	12
DOIs	https://doi.org/10.1002/humu.22854
Publication status	Published - 2015

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Micha, D., Guo, D.-C., Hilhorst-Hofstee, Y., van Kooten, F., Atmaja, D., Overwater, E., Cayami, F. K., Regalado, E. S., van Uffelen, R., Venselaar, H., Faradz, S. M. H., Vriend, G., Weiss, M. M., Sistermans, E. A., Maugeri, A., Milewicz, D. M., Pals, G., & van Dijk, F. S. (2015). SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. Human mutation, 36(12), 1145-1149. https://doi.org/10.1002/humu.22854

@article{d027312b935c4c50b7e0034f3326ecea,

title = "SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections",

abstract = "We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF-β signaling pathway exhibit arterial aneurysms and dissections as key features",

author = "Dimitra Micha and Dong-Chuan Guo and Yvonne Hilhorst-Hofstee and {van Kooten}, Fop and Dian Atmaja and Eline Overwater and Cayami, {Ferdy K.} and Regalado, {Ellen S.} and {van Uffelen}, Ren{\'e} and Hanka Venselaar and Faradz, {Sultana M. H.} and Gerrit Vriend and Weiss, {Marjan M.} and Sistermans, {Erik A.} and Alessandra Maugeri and Milewicz, {Dianna M.} and Gerard Pals and {van Dijk}, {Fleur S.}",

year = "2015",

doi = "https://doi.org/10.1002/humu.22854",

language = "English",

volume = "36",

pages = "1145--1149",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "12",

}

Micha, D, Guo, D-C, Hilhorst-Hofstee, Y, van Kooten, F, Atmaja, D, Overwater, E, Cayami, FK, Regalado, ES, van Uffelen, R, Venselaar, H, Faradz, SMH, Vriend, G, Weiss, MM, Sistermans, EA , Maugeri, A, Milewicz, DM, Pals, G & van Dijk, FS 2015, 'SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections', Human mutation, vol. 36, no. 12, pp. 1145-1149. https://doi.org/10.1002/humu.22854

TY - JOUR

T1 - SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

AU - Micha, Dimitra

AU - Guo, Dong-Chuan

AU - Hilhorst-Hofstee, Yvonne

AU - van Kooten, Fop

AU - Atmaja, Dian

AU - Overwater, Eline

AU - Cayami, Ferdy K.

AU - Regalado, Ellen S.

AU - van Uffelen, René

AU - Venselaar, Hanka

AU - Faradz, Sultana M. H.

AU - Vriend, Gerrit

AU - Weiss, Marjan M.

AU - Sistermans, Erik A.

AU - Maugeri, Alessandra

AU - Milewicz, Dianna M.

AU - Pals, Gerard

AU - van Dijk, Fleur S.

PY - 2015

Y1 - 2015

N2 - We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF-β signaling pathway exhibit arterial aneurysms and dissections as key features

AB - We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF-β signaling pathway exhibit arterial aneurysms and dissections as key features

U2 - https://doi.org/10.1002/humu.22854

DO - https://doi.org/10.1002/humu.22854

M3 - Article

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SN - 1059-7794

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SP - 1145

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JO - Human mutation

JF - Human mutation

IS - 12

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