Novel mutations of NODAL gene in Chinese patients with congenital heart disease

Genetic Testing and Molecular Biomarkers
Lei SunXu Ma

Abstract

Congenital heart disease (CHD) is one of most common birth defects threatening newborns' health. Over the past few decades, a variety of CHD-causing gene mutations have been identified, but the pathogenic mechanism of congenital heart disease is yet not very clear. The aim of this study was to identify potential pathologic mutations in the NODAL gene and to gain insight into the etiology of CHD. By using amplification with polymerase chain reaction and sequence analysis of NODAL in 800 patients with nonsyndromic CHD and 250 healthy controls, we identified 3 nonsynonymous variants. One of them was first identified in the present study. These variants were not observed in 250 controls. To our knowledge, this is the first study to suggest that NODAL may be involved in the etiology of nonsyndromic CHD in a Chinese population.

References

Sep 1, 1980·Acta paediatrica Scandinavica·H B Laursen
May 3, 1996·Science·E N Olson, D Srivastava
Feb 10, 2000·Nature·A F Schier, M M Shen
Jun 27, 2002·Journal of the American College of Cardiology·Julien I E Hoffman, Samuel Kaplan
Oct 23, 2003·Annual Review of Cell and Developmental Biology·Alexander F Schier
Feb 22, 2008·Nature·Benoit G Bruneau
Jun 26, 2009·Molecular Genetics and Metabolism·Erich RoesslerMaximilian Muenke

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

ExPASY ProtScale
NODAL
PolyPhen

Related Concepts

Related Feeds

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.

Related Papers

International Anesthesiology Clinics
Dharam Mann, Vipin Mehta
© 2022 Meta ULC. All rights reserved