2. Academic Validation
  3. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

  • Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581.
Alexander Hoischen 1,  Bregje W M van Bon,  Christian Gilissen,  Peer Arts,  Bart van Lier,  Marloes Steehouwer,  Petra de Vries,  Rick de Reuver,  Nienke Wieskamp,  Geert Mortier,  Koen Devriendt,  Marta Z Amorim,  Nicole Revencu,  Alexa Kidd,  Mafalda Barbosa,  Anne Turner,  Janine Smith,  Christina Oley,  Alex Henderson,  Ian M Hayes,  Elizabeth M Thompson,  Han G Brunner,  Bert B A de Vries,  Joris A Veltman
Affiliations

Affiliation

  • 1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
PMID: 20436468 DOI: 10.1038/ng.581
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.

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