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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome |
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| Authors: | 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 |
| Institution: | Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. |
| 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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