The complex genetics of hypoplastic left heart syndrome

Xiaoqin Liu,Hisato Yagi,Shazina Saeed,Abha Singh Bais,George C. Gabriel,Zhaohan Chen,Kevin A. Peterson,You Li,Molly Schwartz,William T. Reynolds,Manush Saydmohammed,Brian Gibbs,Yijen Wu,William A. Devine,Bishwanath Chatterjee,Nikolai T. Klena,Dennis Kostka,Karen L. de Mesy-Bentley,Madhavi Ganapathiraju,Phillip Dexheimer,Linda Leatherbury,Omar Khalifa,Anchit Bhagat,Maliha Zahid,William T. Pu,Simon C. Watkins,Paul Grossfeld,Stephen A. Murray,George A. Porter,Michael Tsang,Lisa J. Martin,D. Woodrow Benson,Bruce J. Aronow,Cecilia W. Lo

The complex genetics of hypoplastic left heart syndrome

2017

Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes, Sap130 and Pcdha, as contributing to HLHS in a combinatorial manner.

Keywords:

Genetics
Genetic heterogeneity
Hypoplastic left heart syndrome
Gene
Biology
Penetrance
Forward genetics
Heart disease
Zebrafish
Aortic valve

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