[Clinical phenotype and genetic analysis of a fetus with Cardiac valvular dysplasia type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(1): 92-95, 2024 Jan 10.
Article
en Zh
| MEDLINE
| ID: mdl-38171566
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Feto
/
Asesoramiento Genético
Tipo de estudio:
Guideline
Límite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China