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The Capital Region of Denmark - a part of Copenhagen University Hospital
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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  • Alexander Hoischen
  • 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 Kjærgaard
  • 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
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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.
Original languageEnglish
JournalNature Genetics
Volume43
Issue number8
Pages (from-to)729-31
Number of pages3
ISSN1061-4036
DOIs
Publication statusPublished - 2011

    Research areas

  • Codon, Nonsense, Craniosynostoses, Face, Humans, Intellectual Disability, Polymorphism, Single Nucleotide, Repressor Proteins

ID: 33281135