Analysis of clinical features and genetic variant in a Chinese pedigree affected with familial adenomatous polyposis.
10.3760/cma.j.cn511374-20210817-00673
- Author:
Shuai YUAN
1
;
Yusi WANG
;
Wenjing SUN
;
Yujing FAN
;
Jie WU
Author Information
1. Laboratory of Medical Genetics, Harbin Medical University, Harbin, Heilongjiang 150081, China. wujie@hrbmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Adult;
Pedigree;
Adenomatous Polyposis Coli Protein/genetics*;
Germ-Line Mutation;
Adenomatous Polyposis Coli/genetics*;
China;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(11):1252-1256
- CountryChina
- Language:Chinese
-
Abstract:
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.
