NKX2-5 variants screening in patients with atrial septal defect in Indonesia.

ABSTRACT:

Background

NKX2-5 variant in atrial septal defect patients has been reported. However, it is not yet been described in the Southeast Asian population. Here, we screened the NKX2-5 variants in patients with atrial septal defect (ASD) in the Indonesian population.

Method

We recruited 97 patients with ASD for genetic screening of the NKX2-5 variant using Sanger sequencing.

Results

We identified three variants of NKX2-5: NM_004387.4:c.63A>G at exon 1, NM_004387.4:c.413G>A, and NM_004387.4:c.561G>C at exon 2. The first variant is commonly found (85.6%) and benign. The last two variants are heterozygous at the same locus. These variants are rare (3.1%) and novel. Interestingly, these variants were discovered in familial atrial septal defects with a spectrum of arrhythmia an

SUBMITTER: Rozqie R 

PROVIDER: S-EPMC9027821 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature