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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
  • Og 3 flere
  • Joris A Veltman
  • Han G Brunner
  • Bert B B A de Vries
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.
OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind43
Udgave nummer8
Sider (fra-til)729-31
Antal sider3
ISSN1061-4036
DOI
StatusUdgivet - 2011

ID: 40171325