一个家族性腺瘤息肉病家系的临床表现和基因变异分析  

Analysis of clinical features and genetic variant in a Chinese pedigree affected with familial adenomatous polyposis

作　　者：袁帅 王雨思[1,2] 孙文靖 范玉晶[3] 吴杰 Yuan Shuai;Wang Yusi;Sun Wenjing;Fan Yujing;Wu Jie(Laboratory of Medical Genetics,Harbin Medical University Harbin,Heilongjiang 150081,China;Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China(Harbin Medical University),Ministry of Education,Harbin,Heilongjiang 150081,China;Department of Gastroenterology,the Second Hospital Affiliated to Harbin Medical University,Harbin,Heilongjiang 150081,China)

机构地区：[1]哈尔滨医科大学医学遗传学研究室,哈尔滨150081 [2]中国遗传资源保护与疾病防控教育部重点实验室(哈尔滨医科大学),哈尔滨150081 [3]哈尔滨医科大学附属第二医院消化内科,哈尔滨150081

出　　处：《中华医学遗传学杂志》2022年第11期1252-1256,共5页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2016YFC1000504);哈尔滨医科大学少帅揭榜项目(HMUMIF-21007)。

摘　　要：目的分析一个家族性腺瘤息肉病(familial adenomatous polyposis,FAP)家系的临床特点及致病变异。方法收集患者的临床信息,采集外周血样提取DNA,进行全外显子组测序,并通过Sanger测序对候选变异进行验证。结果先证者为女性,33岁,发现多发腺瘤性息肉。基因检测提示其APC基因存在c.1922dupA(p.N641fs*10)杂合变异,既往未见报道。根据美国医学遗传学与基因组学学会指南,判断为可能致病。结论c.1922dupA(p.N641fs*10)变异可能是该家系的遗传学病因。上述发现有助于对该家系进行遗传咨询。Objective To analyze the clinical features and genetic basis for a Chinese pedigree affected with familial adenomatous polyposis(FAP).Methods Clinical information of the patient was collected.Genomic DNA was extracted from peripheral blood sample of the patient and subjected to whole exome sequencing(WES).Candidate variant was verified by Sanger sequencing.Results The proband,a 33-year-old female,was found to have multiple adenomatous polyps in the intestine.WES revealed that she has harbored a heterozygous variant of the APC gene,namely c.1922dupA(p.N641fs*10),which was unreported previously.Based on the guidelines of the American College of Medical Genetics and Genomics,the variant was predicted to be likely pathogenic.Conclusion The c.1922dupA(p.N641fs*10)variant of the APC gene probably underlay the FAP in this pedigree.Above finding has enabled genetic counseling for this family.

关 键 词：家族性腺瘤息肉病 APC基因 全外显子组测序 遗传咨询 

分 类 号：R596[医药卫生—内科学]