Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1
10.3760/cma.j.cn511374-20220909-00616
- VernacularTitle:心脏瓣膜发育不全1型胎儿1例的临床表型及遗传学分析
- Author:
Lulu YAN
1
;
Juan CAO
;
Yuxin ZHANG
;
Dongmei LI
;
Yingwen LIU
;
Xiangchun YANG
;
Haibo LI
Author Information
1. 宁波市妇女儿童医院出生缺陷综合防治实验室，宁波 315012
- Keywords:
Cardiac valvular dysplasia 1;
Whole exome sequencing;
PLD1 gene;
Compound heterozygous variants
- From:
Chinese Journal of Medical Genetics
2024;41(1):92-95
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a fetus with Cardiac valvular dysplasia type 1 (CVDP1).Methods:A CVDP1 fetus identified at the Ningbo Women and Children′s Hospital on July 7, 2022 was selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were subjected to trio-whole exome sequencing (trio-WES), and candidate variants were verified by Sanger sequencing.Results:The fetus had exhibited generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes. Trio-WES revealed that it has harbored compound heterozygous variants of the PLD1 gene, namely c. 2977C>T (p.R993*) and c. 1460G>A (p.W487*), which were respectively inherited from its father and mother. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2977C>T (p.R993*) variant was evaluated to be likely pathogenic (PVS1_Moderate+ PM2_Supporting+ PM3+ PP4), whilst the c. 1460G>A (p.W487*) variant was evaluated to be pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The c. 2977C>T (p.R993*) and c. 1460G>A (p.W487*) compound heterozygous variants of the PLD1 gene probably underlay the CVDP1 in the fetus. Above discovery has enriched the mutational spectrum of the PLD1 gene and provided a guidance for genetic counseling and prenatal diagnosis in this family.
