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Article

RCAN1 Mutation and Functional Characterization in Children with Sporadic Congenital Heart Disease.

Pediatric cardiology - 1 Feb 2018

Li Xiaoyong, Shi Lei, Xu Ming, Zheng Xun, Yu Yiwen, Jin Jing

Abstract excerpt

Congenital heart disease (CHD) is the most frequent birth defect. RCAN1 (regulator of calcineurin 1) contributes to CHD in Down syndrome. However, whether RCAN1 is also associated with nonsyndromic CHD remains unclear. This study sequenced the exons and flanking region of RCAN1 in 128 sporadic CHD patients and 150 normal controls. We identified six novel heterozygous mutations in CHD patients. Functional assay...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28993896
DOI: 10.1007/s00246-017-1746-y

Genes

RCAN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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