A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis

	A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis
	Zhao Zhang; Shengyun Liang; Dan Wang; Shengran Liang; Yuwei Li; Bingjie Wang; Tao jiang; Guoru Zhao; Xipeng Zhang; Santasree Banerjee
刊名	Scientific Reports
	2017
文献子类	期刊论文
英文摘要	Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition which is associated with germline mutations of the APC gene. Clinically, FAP is characterized by the development of multiple colorectal adenomas or polyps which finally result in colorectal cancer by the 40 years age of the patient, if no surgical interventions have been undertaken. In this study, we present a clinical molecular study of a four generation Chinese family with FAP. Diagnosis of FAP was made on the basis of clinical manifestations, family history and medical (colonoscopy and histopathology) records. Genetic screening of the proband and all affected family members were performed by targeted next-generation sequencing and confirmatory Sanger sequencing. Targeted next generation sequencing identified a germline novel heterozygous single nucleotide deletion [c.3418delC; p.Pro1140Leufs*25] in exon18 of APC gene, which segregated with the FAP phenotypes in the proband and in all the affected family members whereas absent in unaffected family members as well as in normal healthy controls of same ethnic origin. Our present study expands the mutational spectrum of APC gene and provides evidence to understand the function of APC gene in FAP.
URL标识	查看原文
语种	英语
内容类型	期刊论文
源URL	[http://ir.siat.ac.cn:8080/handle/172644/12000]
专题	深圳先进技术研究院_医工所
作者单位	Scientific Reports
推荐引用方式 GB/T 7714	Zhao Zhang,Shengyun Liang,Dan Wang,et al. A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis[J]. Scientific Reports,2017.
APA	Zhao Zhang.,Shengyun Liang.,Dan Wang.,Shengran Liang.,Yuwei Li.,...&Santasree Banerjee.(2017).A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.Scientific Reports.
MLA	Zhao Zhang,et al."A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis".Scientific Reports (2017).