AUTHOR=Yuan Zhuang-Zhuang , Fan Liang-Liang , Jiang Zi-Chen , Yang Yi-Feng , Tan Zhi-Ping TITLE=A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient JOURNAL=Frontiers in Cardiovascular Medicine VOLUME=7 YEAR=2020 URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2020.582350 DOI=10.3389/fcvm.2020.582350 ISSN=2297-055X ABSTRACT=
The position and morphology of human internal organs are asymmetrically distributed along the left–right axis. Aberrant left–right patterning in the developing embryo can lead to a series of congenital laterality defects, such as dextrocardia and heterotaxy syndrome. Laterality defects are a genetic condition; however, pathogenic genetic lesions are found in only one-fifth of patients. In this study, whole-exome sequencing was conducted for 78 patients with laterality defects. We identified a novel stopgain variant in