Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease
10.3760/cma.j.cn511374-20230523-00311
- VernacularTitle:常染色体显性遗传成人多囊性肾病一个家系的遗传学分析及产前诊断
- Author:
Zhihua TANG
1
;
Chunlan ZHENG
;
Wenwen WANG
;
Zhengxia HE
;
Chanli ZHANG
;
Yan WANG
;
Qian MA
;
Hongjun GUO
Author Information
1. 郑州大学第一附属医院妇科，郑州 450052
- Keywords:
Polycystic kidney disease;
Whole exome sequencing;
Genetic variant;
Prenatal diagnosis
- From:
Chinese Journal of Medical Genetics
2024;41(9):1072-1076
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).Methods:A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c. 11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+ PM2_Supporting+ PP3). Conclusion:The c. 11098C>T (p.R3700C) and c. 11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.
