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Article

Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.

Circulation. Genomic and precision medicine - 1 Jun 2023

Jang Min Young, Patel Parth N, Pereira Alexandre C, Willcox Jon A L, Haghighi Alireza, Tai Angela C, Ito Kaoru, Morton Sarah U, Gorham Joshua M, McKean David M, DePalma Steven R, Bernstein Daniel, Brueckner Martina, Chung Wendy K, Giardini Alessandro, Goldmuntz Elizabeth, Kaltman Jonathan R, Kim Richard, Newburger Jane W, Shen Yufeng, Srivastava Deepak, Tristani-Firouzi Martin, Gelb Bruce D, Porter George A, Seidman Christine E, Seidman Jonathan G

Abstract excerpt

BACKGROUND: Known genetic causes of congenital heart disease (CHD) explain <40% of CHD cases, and interpreting the clinical significance of variants with uncertain functional impact remains challenging. We aim to improve diagnostic classification of variants in patients with CHD by assessing the impact of noncanonical splice region variants on RNA splicing. METHODS: We tested de novo variants from trio studies of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37165897
DOI: 10.1161/CIRCGEN.122.003924
PMCID: PMC10404383

Genes

DYNC2H1
HECTD1
KMT2D
RBFOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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