RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
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DOI：
10.1016/j.ajhg.2012.07.005
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发表时间：
2012-08-10
影响因子：
9.8
通讯作者：
Gaffney, Patrick M.
中科院分区：
文献类型：
--
作者：
Hassed, Susan J.;Wiley, Graham B.;Gaffney, Patrick M.
通过外显子组重测序，我们在亚当斯-奥利弗综合征（AOS）的两个独立家族中发现了免疫球蛋白kappa J （RBPJ）重组信号结合蛋白的两个独特突变。亚当斯-奥利弗综合征是一种罕见的多发性畸形疾病，主要由头皮顶点先天性皮肤发育不全和横断末端肢体缺陷组成。这些已确定的突变将RBPJ （Notch通路的主要转录调节因子）与AOS（一种人类遗传疾病）联系起来。功能分析证实突变的RBPJ的DNA结合受损，将其置于人类遗传综合征中改变的其他缺口通路蛋白中。
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.