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.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Alexander
authors.initials: A
authors.lastname: Hoischen
authors.forename: Bregje W M
authors.initials: BW
authors.lastname: van Bon
authors.forename: Christian
authors.initials: C
authors.lastname: Gilissen
authors.forename: Peer
authors.initials: P
authors.lastname: Arts
authors.forename: Bart
authors.initials: B
authors.lastname: van Lier
authors.forename: Marloes
authors.initials: M
authors.lastname: Steehouwer
authors.forename: Petra
authors.initials: P
authors.lastname: de Vries
authors.forename: Rick
authors.initials: R
authors.lastname: de Reuver
authors.forename: Nienke
authors.initials: N
authors.lastname: Wieskamp
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: Marta Z
authors.initials: MZ
authors.lastname: Amorim
authors.forename: Nicole
authors.initials: N
authors.lastname: Revencu
authors.forename: Alexa
authors.initials: A
authors.lastname: Kidd
authors.forename: Mafalda
authors.initials: M
authors.lastname: Barbosa
authors.forename: Anne
authors.initials: A
authors.lastname: Turner
authors.forename: Janine
authors.initials: J
authors.lastname: Smith
authors.forename: Christina
authors.initials: C
authors.lastname: Oley
authors.forename: Alex
authors.initials: A
authors.lastname: Henderson
authors.forename: Ian M
authors.initials: IM
authors.lastname: Hayes
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Thompson
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human