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

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

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

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen et al. Nat Genet. .

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.

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