Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children's Physicians Building, 1200 Children's Avenue, Oklahoma City, OK 73104, USA.
Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.
Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.
通过外显子重测序，我们在两个受亚当斯-奥利弗综合征（AOS）影响的独立家庭中发现了两个独特的免疫球蛋白 κJ 重组信号结合蛋白（RBPJ）突变。AOS 是一种罕见的多畸形疾病，主要由顶头皮先天性无皮肤和横向末端肢体缺陷组成。这些鉴定出的突变将 RBPJ（Notch 通路的主要转录调节因子）与 AOS 联系起来，AOS 是一种人类遗传疾病。功能分析证实突变的 RBPJ 其 DNA 结合受损，使其成为人类遗传综合征中改变的其他 Notch 通路蛋白之一。
