De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

339Citations
Citations of this article
342Readers
Mendeley users who have this article in their library.
Get full text
This PDF is freely available from an open access repository. It may not have been peer-reviewed.

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. © 2010 Nature America, Inc. All rights reserved.

Cite

CITATION STYLE

APA

Hoischen, A., Van Bon, B. W. M., Gilissen, C., Arts, P., Van Lier, B., Steehouwer, M., … 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

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free