2. Academic Validation
  3. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  • Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868.
Alexander Hoischen 1,  Bregje W M van Bon,  Benjamín Rodríguez-Santiago,  Christian Gilissen,  Lisenka E L M Vissers,  Petra de Vries,  Irene Janssen,  Bart van Lier,  Rob Hastings,  Sarah F Smithson,  Ruth Newbury-Ecob,  Susanne Kjaergaard,  Judith Goodship,  Ruth McGowan,  Deborah Bartholdi,  Anita Rauch,  Maarit Peippo,  Jan M Cobben,  Dagmar Wieczorek,  Gabriele Gillessen-Kaesbach,  Joris A Veltman,  Han G Brunner,  Bert B B A de Vries
Affiliations

Affiliation

  • 1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
PMID: 21706002 DOI: 10.1038/ng.868
Abstract

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.

Figures