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Article

Rare pathogenic NR2F2 (COUP-TFII) variants as potential etiological causes in pediatric patients with congenital heart diseases (CHDs).

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese - 1 Jan 2026

Mansoor Wahidullah, Heidari Mohammad Mehdi, Khatami Mehri, Hadadzadeh Mehdi, Tabrizi Fateme, Darvand Araghi Mohammad Hosein

Abstract excerpt

OBJECTIVES: Congenital heart diseases (CHDs) are complex genetic disorders, and their genetic basis is not yet fully understood. Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TFII) encodes a transcription factor which is expressed at high levels during mammalian development. Few studies have identified heterozygous and rare variants in the NR2F2 gene in individuals with CHD. This study aimed to...

Read the complete abstract on PubMed

Topics

Humans
COUP Transcription Factor II
Female
Heart Defects, Congenital
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Case-Control Studies

Child

Child, Preschool

Mutation, Missense

Genetic Predisposition to Disease

Infant

Source

Identifiers

PMID: 40015456
DOI: 10.1016/j.hjc.2025.02.005

Genes

NR2F2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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