A novel NOTCH1 missense variant in two fetuses with a non-syndromic conotruncal heart defect from a single family.
Prenat Diagn
; 43(3): 280-283, 2023 03.
Article
en En
| MEDLINE
| ID: mdl-36567270
ABSTRACT
AIMS:
We describe two fetuses with conotruncal heart defects (CTDs) (persistent truncus arteriosus and pulmonary atresia/ventricular septal defect, respectively) in a Chinese family whose parents were both healthy. Testing was performed to identify any underlying genetic cause. MATERIALS ANDMETHODS:
Genomic DNA was extracted from the peripheral blood of the proband's parents and the skeletal muscle tissue of the two aborted fetuses for genetic testing.RESULTS:
A heterozygous likely pathogenic missense variant, c.1724GãC (p.Cys575Ser), in the NOTCH1 gene (NM_017617.5) was detected in the two affected fetuses but not in the parents, and the next generation sequencing test of the proband's father showed a normal result. It is therefore presumed to result from germline mosaicism in the proband's mother or, less likely, is a recurrent de novo variant in the fetuses.CONCLUSION:
This is the first description of fetal non-syndromic CTD caused by a variant in NOTCH1. This report not only expands the gene variant spectrum of CTDs, but also emphasizes the importance of NOTCH1 testing when a fetal of CTD is detected.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cardiopatías Congénitas
/
Defectos del Tabique Interventricular
Límite:
Humans
Idioma:
En
Revista:
Prenat Diagn
Año:
2023
Tipo del documento:
Article
País de afiliación:
China