Publication
Title
**De novo** mutations of **SETBP1** cause Schinzel-Giedion syndrome
Author
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.
Language
English
Source (journal)
Nature genetics. - New York, N.Y.
Nature genetics. - New York, N.Y.
Publication
New York, N.Y. : 2010
ISSN
1061-4036
Volume/pages
42 :6 (2010) , p. 483-485
ISI
000278081500009
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 01.03.2012
Last edited 27.09.2021
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