Article
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Nature genetics - 1 Jun 2010
Hoischen Alexander, van Bon Bregje W M, Gilissen Christian, Arts Peer, van Lier Bart, Steehouwer Marloes, de Vries Petra, de Reuver Rick, Wieskamp Nienke, Mortier Geert, Devriendt Koen, Amorim Marta Z, Revencu Nicole, Kidd Alexa, Barbosa Mafalda, Turner Anne, Smith Janine, Oley Christina, Henderson Alex, Hayes Ian M, Thompson Elizabeth M, Brunner Han G, de Vries Bert B A, Veltman Joris A
Abstract excerpt
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...
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