Novel insertion in the TCOF1 gene and partial non-penetrance in a Chinese family with Treacher Collins syndrome

科研成果详情

题名	Novel insertion in the TCOF1 gene and partial non-penetrance in a Chinese family with Treacher Collins syndrome
作者	Yijian Mao ; Binjiao Zheng ; Yinyin Chen ; Xiangnan Chen ; Minxin Guan
会议录名称	2014浙江省医学会医学遗传学学术年会论文汇编影响因子和分区
语种	英语
原始文献类型	中国会议
摘要	Treacher Collins syndrome(TCS)is an autosomal dominant disorder of craniofacial development with an incidence of 1 in 50,000 every living birth.Mutations of the TCOFl gene have been found to be responsible for over 90%cases of this mandibulofacial disorder.Here we report TCS in a Chinese family who carries 1bp de novo heterozygous insertion,c.1055insG in exon 8 of the TCOFl gene.This insertion causes a frameshift mutation and a premature stop codon at position 420 of the treacle protein.However,the most interesting is that the parents who all carry the same frameshift mutation haven't any craniofacial abnormalities.It has been demonstrated that mutations in Tcof 1 gene disrupt ribosome biogenesis to a degree that don't meet the proliferative needs of the neuroepithelium and neural crest cells and causes nucleolar stress activation of the p53-dependent apoptotic pathway.Therefore the p53 loss-of-function,or the downstream regulators of p53 pathway may rescue the parents'phenotype.
页码	1
收录类别	CNKI
发表日期	2014-07-11
文献类型	会议论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/167913
专题	其他_定理临床学院（温州市中心医院）第二临床医学院，附属第二医院、育英儿童医院检验医学院（生命科学学院、生物学实验教学中心）_Attardei线粒体研究院
作者单位	1.Department of Genetics of Dingli Clinical Medical School of Wenzhou Medical University 2.Attardi Institute of Mitochondrial Biomedicine Wenzhou Medical University 3.Department of Otorhinolaryngology 4.Second Affiliated Hospital and YuYing Children's Hospital of Wenzhou Medical University 5.Zhejiang Key Laboratory of Medical Genetics 6.College of Life Sciences 7.Zhejiang University
推荐引用方式 GB/T 7714	Yijian Mao,Binjiao Zheng,Yinyin Chen,et al. Novel insertion in the TCOF1 gene and partial non-penetrance in a Chinese family with Treacher Collins syndrome[C],2014:1.