De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen; Bregje W.M. Van Bon; Christian Gilissen; Peer Arts; Bart Van Lier; Marloes Steehouwer; Petra De Vries; Rick De Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z. Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M. Hayes; Elizabeth M. Thompson; Han G. Brunner; Bert B.A. De Vries; Joris A. Veltman

doi:10.1038/ng.581

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. Van Bon, Christian Gilissen, Peer Arts, Bart Van Lier, Marloes Steehouwer, Petra De Vries, Rick De Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z. Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M. HayesElizabeth M. Thompson, Han G. Brunner, Bert B.A. De Vries, Joris A. Veltman

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

382 Scopus citations

Abstract

Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.

Original language	English
Pages (from-to)	483-485
Number of pages	3
Journal	Nature Genetics
Volume	42
Issue number	6
DOIs	https://doi.org/10.1038/ng.581
State	Published - Jun 2010
Externally published	Yes

Access to Document

10.1038/ng.581

Cite this

Hoischen, A., Van Bon, B. W. M., Gilissen, C., Arts, P., Van Lier, B., Steehouwer, M., De Vries, P., De Reuver, R., Wieskamp, N., Mortier, G., Devriendt, K., Amorim, M. Z., Revencu, N., Kidd, A., Barbosa, M., Turner, A., Smith, J., Oley, C., Henderson, A., ... Veltman, J. A. (2010). De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics, 42(6), 483-485. https://doi.org/10.1038/ng.581

@article{6509513a1e834b31ab41d8c14389ed45,

title = "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome",

abstract = "Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.",

author = "Alexander Hoischen and {Van Bon}, {Bregje W.M.} and Christian Gilissen and Peer Arts and {Van Lier}, Bart and Marloes Steehouwer and {De Vries}, Petra and {De Reuver}, Rick and Nienke Wieskamp and Geert Mortier and Koen Devriendt and Amorim, {Marta Z.} and Nicole Revencu and Alexa Kidd and Mafalda Barbosa and Anne Turner and Janine Smith and Christina Oley and Alex Henderson and Hayes, {Ian M.} and Thompson, {Elizabeth M.} and Brunner, {Han G.} and {De Vries}, {Bert B.A.} and Veltman, {Joris A.}",

year = "2010",

month = jun,

doi = "10.1038/ng.581",

language = "English",

volume = "42",

pages = "483--485",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "6",

}

Hoischen, A, Van Bon, BWM, Gilissen, C, Arts, P, Van Lier, B, Steehouwer, M, De Vries, P, De Reuver, R, Wieskamp, N, Mortier, G, Devriendt, K, Amorim, MZ, Revencu, N, Kidd, A, Barbosa, M, Turner, A, Smith, J, Oley, C, Henderson, A, Hayes, IM, Thompson, EM, Brunner, HG, De Vries, BBA & Veltman, JA 2010, 'De novo mutations of SETBP1 cause Schinzel-Giedion syndrome', Nature Genetics, vol. 42, no. 6, pp. 483-485. https://doi.org/10.1038/ng.581

TY - JOUR

T1 - De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

AU - Hoischen, Alexander

AU - Van Bon, Bregje W.M.

AU - Gilissen, Christian

AU - Arts, Peer

AU - Van Lier, Bart

AU - Steehouwer, Marloes

AU - De Vries, Petra

AU - De Reuver, Rick

AU - Wieskamp, Nienke

AU - Mortier, Geert

AU - Devriendt, Koen

AU - Amorim, Marta Z.

AU - Revencu, Nicole

AU - Kidd, Alexa

AU - Barbosa, Mafalda

AU - Turner, Anne

AU - Smith, Janine

AU - Oley, Christina

AU - Henderson, Alex

AU - Hayes, Ian M.

AU - Thompson, Elizabeth M.

AU - Brunner, Han G.

AU - De Vries, Bert B.A.

AU - Veltman, Joris A.

PY - 2010/6

Y1 - 2010/6

N2 - Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.

AB - Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.

UR - http://www.scopus.com/inward/record.url?scp=77952888699&partnerID=8YFLogxK

U2 - 10.1038/ng.581

DO - 10.1038/ng.581

M3 - Article

C2 - 20436468

AN - SCOPUS:77952888699

SN - 1061-4036

VL - 42

SP - 483

EP - 485

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Abstract

Access to Document

Fingerprint

Cite this