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

作者：Zhang, Zhao; Liang, Shengyun; Wang, Dan; Liang, Shengran; Li, Yuwei; Wang, Bingjie; Jiang, Tao; Zhao, Guoru; Zhang, Xipeng^*; Banerjee, Santasree^*

来源：Scientific Reports, 2017, 7(1): 12357.

DOI：10.1038/s41598-017-10395-x

• COLI GENE
• MUTATION
• IDENTIFICATION

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.

• 出版日期2017-9-27
• 单位中国科学院深圳先进技术研究院; 深圳华大生命科学研究院; 天津医科大学; 天津市人民医院