Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects.

ABSTRACT:

Background

Conotruncal defects (CTDs) are a type of heterogeneous congenital heart diseases (CHDs), but little is known about their etiology. Increasing evidence has demonstrated that fibroblast growth factor (FGF) 8 and FGF10 may be involved in the pathogenesis of CTDs.

Methods

The variants of FGF8 and FGF10 in unrelated Chinese Han patients with CHDs (n = 585), and healthy controls (n = 319) were investigated. The expression and function of these patient-identified variants were detected to confirm the potential pathogenicity of the non-synonymous variants. The expression of FGF8 and FGF10 during the differentiation of human embryonic stem cells (hESCs) to cardiomyocytes and in Carnegie stage 13 human embryo was also identified.

Results

Two probable deleterious vari

SUBMITTER: Zhou S 

PROVIDER: S-EPMC7362408 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature