De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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 Kjaergaard, Judith Goodship, Ruth McGowan, Deborah Bartholdi, Anita Rauch, Maarit Peippo, Jan M. Cobben, Dagmar Wieczorek, Gabriele Gillessen-KaesbachJoris A. Veltman, Han G. Brunner*, Bert B.B.A. De Vries

*Corresponding author for this work
126 Citations (Scopus)


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
Issue number8
Pages (from-to)729-731
Number of pages3
Publication statusPublished - 01.08.2011


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