Article
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Nature genetics - 26 Jun 2011
Hoischen Alexander, van Bon Bregje W M, Rodríguez-Santiago Benjamín, Gilissen Christian, Vissers Lisenka E L M, de Vries Petra, Janssen Irene, van Lier Bart, Hastings Rob, Smithson Sarah F, Newbury-Ecob Ruth, Kjaergaard Susanne, Goodship Judith, McGowan Ruth, Bartholdi Deborah, Rauch Anita, Peippo Maarit, Cobben Jan M, Wieczorek Dagmar, Gillessen-Kaesbach Gabriele, Veltman Joris A, Brunner Han G, de Vries Bert B B A
Abstract excerpt
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...
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