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Article

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

The Canadian journal of cardiology - 1 Feb 2014

Greenway Steven C, McLeod Ross, Hume Stacey, Roslin Nicole M, Alvarez Nanette, Giuffre Michael, Zhan Shing H, Shen Yaoqing, Preuss Christoph, Andelfinger Gregor, Jones Steven J M, Gerull Brenda

Abstract excerpt

BACKGROUND: The genetics of congenital heart disease (CHD) remain incompletely understood. Exome sequencing has been successfully used to identify disease-causing mutations in familial disorders in which candidate gene analyses and linkage mapping have failed. METHODS: We studied a large family characterized by autosomal dominant isolated secundum atrial septal defect (ASD) (MIM No. 612794). Candidate gene...

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Source

Identifiers

PMID: 24461919
DOI: 10.1016/j.cjca.2013.12.003

Genes

ACTC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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