Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.

ABSTRACT:

Background

Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder have not been entirely determined because of the rarity of clinical reports. The BAF complex plays a crucial role in embryogenesis and cardiac development, and pathogenic variants in genes encoding the components of the BAF complex have been associated with congenital heart disease (CHD). However, variants in SMARCC2 have not been reported in patients with CHD.

Case presentation

A 28-year-old primigravida was referred at 24 weeks gestation for prenatal echocardiography. The echocardiographic findings were consistent with a prenatal ultrasoun

SUBMITTER: Sun H 

PROVIDER: S-EPMC8895577 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature