Article
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
Human molecular genetics - 15 Jul 2016
Burnicka-Turek Ozanna, Steimle Jeffrey D, Huang Wenhui, Felker Lindsay, Kamp Anna, Kweon Junghun, Peterson Michael, Reeves Roger H, Maslen Cheryl L, Gruber Peter J, Yang Xinan H, Shendure Jay, Moskowitz Ivan P
Abstract excerpt
Atrioventricular septal defects (AVSDs) are a common severe form of congenital heart disease (CHD). In this study we identified deleterious non-synonymous mutations in two cilia genes, Dnah11 and Mks1, in independent N-ethyl-N-nitrosourea-induced mouse mutant lines with heritable recessive AVSDs by whole-exome sequencing. Cilia are required for left/right body axis determination and second heart field (SHF)...
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