SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population.

ABSTRACT:

Background

Solute carrier family 2 member 3 (SLC2A3), is a member of a superfamily of transport protein genes. SLC2A3 played an important role in embryonic development. Previous research reported SLC2A3 duplication was reportedly associated with congenital syndromic heart defects. However, it is not clear whether the gene is associated with non-syndromic congenital heart disease. Our study aimed to elucidate the relationship between its variation and congenital heart disease.

Methods

Genomic DNA extracted from the peripheral blood leukocytes of two families with CHD were sequenced with whole-exome sequencing to identify variations, used Sanger sequencing to investigate SLC2A3 variants in 494 Chinese patients with CHD and 576 healthy unrelated individuals.

Results

In m

SUBMITTER: Ma L 

PROVIDER: S-EPMC9169219 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature