Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot.

ABSTRACT:

Background

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.

Methods

Whole exome sequencing (WES) and Sanger sequencing were applied to a family trio diagnosed with TOF by fetal prenatal ultrasound examination. A minigene assay was performed to confirm the splicing defects.

Results

We identified compound heterozygous variants in the cerebral cavernous malformation 2-like (CCM2L) gene, namely the paternally inherited nonsense variant NM_001365692.1:c.741G>A p.(Trp247Ter) and the maternally inherited splice-site variant NM_001365692.1:c.1263+2T>A in a fetus with TOF featuring a ventricular septal defect associated with overriding aorta and pulmonary stenosis. Min

SUBMITTER: Ling D 

PROVIDER: S-EPMC12168162 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature