Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease
To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD). A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as...
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| Published in: | Zhonghua yi xue yi chuan xue za zhi Vol. 41; no. 9; p. 1072 |
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| Main Authors: | , , , , , , , |
| Format: | Journal Article |
| Language: | Chinese |
| Published: |
China
10-09-2024
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| Subjects: | |
| Online Access: | Get more information |
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| Summary: | To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).
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.
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).
The c.11098C>T (p.R3700C) and c.11039T>C (p.F3680S) co |
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| ISSN: | 1003-9406 |
| DOI: | 10.3760/cma.j.cn511374-20230523-00311 |