Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects

Genome Medicine
Chunjie LiuKun Sun

Abstract

Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory. However, the underlying etiology and mechanisms in the majority of Htx cases remain unknown. The aim of this study was to investigate the function of rare copy number variants (CNVs) in the pathogenesis of Htx. We collected 63 sporadic Htx patients with congenital heart defects and identified rare CNVs using an Affymetrix CytoScan HD microarray and real-time polymerase chain reaction. Potential candidate genes associated with the rare CNVs were selected by referring to previous literature related to left-right development. The expression patterns and function of candidate genes were further analyzed by whole mount in situ hybridization, morpholino knockdown, clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)-mediated mutation, and over-expressing methods with zebrafish models. Nineteen rare CNVs were identified for the first time in patients with Htx. These CNVs include 5 heterozygous ge...Continue Reading

References

Feb 15, 2001·European Journal of Human Genetics : EJHG·A K MaitiP Bouvagnet
Jul 27, 2002·Proceedings of the National Academy of Sciences of the United States of America·Lucia BartoloniStylianos E Antonarakis
Dec 19, 2003·American Journal of Human Genetics·Stephanie M WareJohn W Belmont
Oct 28, 2005·European Journal of Human Genetics : EJHG·Lirong ZhuStephanie M Ware
Feb 24, 2006·The American Journal of Cardiology·Mio TaketazuLisa K Hornberger
May 17, 2006·Mechanisms of Development·Yuichi NiikuraSumiko Watanabe
Nov 1, 2006·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Christina D CotaTeresa M Gunn
Feb 22, 2008·Cardiology in the Young·Jeffrey P JacobsMartin J Elliott
Oct 31, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Mardi J Sutherland, Stephanie M Ware
Feb 27, 2010·Circulation Research·Peng-chun YuJiu-lin Du
Feb 2, 2011·Proceedings of the National Academy of Sciences of the United States of America·Khalid A FakhroMartina Brueckner
Jun 29, 2012·American Journal of Medical Genetics. Part a·Samaneh ZhianCheryl L Maslen
Aug 7, 2012·Circulation Journal : Official Journal of the Japanese Circulation Society·Isao Shiraishi, Hajime Ichikawa
Oct 15, 2013·The EMBO Journal·Bine H VillumsenSimon Bekker-Jensen
Nov 12, 2013·Nature Communications·Emily S NoëlJeroen Bakkers
Aug 8, 2014·BioMed Research International·Wajdi AyadiRaja Mokdad-Gargouri
Aug 15, 2014·European Journal of Medical Genetics·Kosuke IzumiIan D Krantz
Sep 19, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Shannon L RiglerJames L Mills
Dec 24, 2014·Developmental Cell·Julien CompagnonCarl-Philipp Heisenberg
May 20, 2016·Molecular Biology of the Cell·Catrina M LoucksMichel R Leroux
Nov 9, 2016·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Jason R CowanStephanie M Ware

❮ Previous
Next ❯

Citations

Sep 17, 2019·Intractable & Rare Diseases Research·Taichi ImaizumiToshiyuki Yamamoto
Dec 24, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela E LinIris Gutmark-Little
May 16, 2019·Current Opinion in Pediatrics·Saquib A Lakhani, Richard Pierce
Jan 1, 2020·Biomolecules·Kylia WilliamsCecilia Lo
Mar 5, 2020·Computational and Structural Biotechnology Journal·Xin ShiKun Sun
Aug 2, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Shuzhang LiangRuilin Zhang
Apr 1, 2021·British Journal of Pharmacology·George BowleyJovana Serbanovic-Canic
Mar 8, 2021·Clinical and Experimental Pediatrics·Heeyoung SeokDa-Zhi Wang

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping
ubiquitination
chip
PCR

Software Mentioned

Chromosome Analysis Suite ( ChAS )
WMISH

Related Concepts

Related Feeds

CRISPR Ribonucleases Deactivation

CRISPR-Cas system enables the editing of genes to create or correct mutations. This feed focuses on mechanisms that underlie deactivation of CRISPR ribonucleases. Here is the latest research.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Biomarkers for Cardiovascular Risk Assessment

Sensitive and accurate biomarkers used in cardiovascular risk prediction can potentially be used to manage the risk of cardiovascular disease. Discover the latest research on Biomarkers for Cardiovascular Risk Assessment here. Discover the latest research on Biomarkers for Cardiovascular Risk Assessment here.

CRISPR (general)

Clustered regularly interspaced short palindromic repeats (CRISPR) are DNA sequences in the genome that are recognized and cleaved by CRISPR-associated proteins (Cas). CRISPR-Cas system enables the editing of genes to create or correct mutations. Discover the latest research on CRISPR here.

CRISPR for Genome Editing

Genome editing technologies enable the editing of genes to create or correct mutations. Clustered regularly interspaced short palindromic repeats (CRISPR) are DNA sequences in the genome that are recognized and cleaved by CRISPR-associated proteins (Cas). Here is the latest research on the use of CRISPR-Cas system in gene editing.

Biophysics of CRISPR

This feed focuses on broad characteristics of the CRISPR system and the proteins associated with it.