De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Nonsense / genetics*
  • Craniosynostoses / etiology*
  • Craniosynostoses / pathology*
  • Face / abnormalities
  • Face / pathology
  • Humans
  • Intellectual Disability / etiology
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Polymorphism, Single Nucleotide / genetics*
  • Repressor Proteins / genetics*


  • ASXL1 protein, human
  • Codon, Nonsense
  • Repressor Proteins

Supplementary concepts

  • Bohring syndrome

Associated data

  • RefSeq/NM_015338