Copy-number variation in congenital heart disease.

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Abstract

Genomic copy-number variants (CNVs) contribute to as many congenital heart disease (CHD) cases (10-15%) as chromosomal aberrations or single-gene mutations and influence clinical outcomes. CNVs in a few genomic hotspots (1q21.1, 2q13, 8p23.1, 11q24, 15q11.2, 16p11.2, and 22q11.2) are recurrently enriched in CHD cohorts and affect dosage-sensitive transcriptional regulators that are required for cardiac development. Reduced penetrance and pleiotropic effects on brain and heart development are common features of these CNVs. Therefore, additional genetic 'hits,' such as a second CNV or gene mutation, are probably required to cause CHD in most cases. Integrative analysis of CNVs, genome sequence, epigenetic alterations, and gene function will be required to delineate the complete genetic landscape of CHD.

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Journal

Journal ID (iso-abbrev): Curr Opin Genet Dev

Title: Current opinion in genetics & development

Publisher: Elsevier BV

ISSN (Electronic): 1879-0380

ISSN (Print): 0959-437X

Publication date (Electronic): Dec 2022

Volume: 77

Affiliations

[1 ] Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX 77030, USA.

[2 ] Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX 77030, USA. Electronic address: Siddharth.K.Prakash@uth.tmc.edu.

Article

Publisher Item ID: S0959-437X(22)00095-8

DOI: 10.1016/j.gde.2022.101986

PubMed ID: 36202051

SO-VID: fbfdae91-3679-4962-9f6b-db31b88e9e65

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