Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868.
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.
Bohring-Opitz 综合征的特征为严重智力障碍、独特的面部特征和多种先天性畸形。我们对 3 名 Bohring-Opitz 综合征患者进行了外显子组测序，在每个人身上均发现了 ASXL1 的杂合新生无义突变，ASXL1 对于 Hox 基因的激活和沉默维持都是必需的。共有 13 名 Bohring-Opitz 表型患者中的 7 名存在新生 ASXL1 突变，提示该综合征具有遗传异质性。
