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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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Journal Article
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
2010
Overview
Joris Veltman and colleagues apply exome sequencing to identify heterozygous
de novo
mutations in
SETBP1
as the cause of Schinzel-Giedion syndrome, a rare sporadic disorder characterized by severe intellectual disability and multiple congenital malformations.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Abnormalities, Multiple - genetics
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Intellectual Disability - genetics
/ Methods
/ Mutation
/ Single nucleotide polymorphisms
/ Syndrome
