Inken G Huttner, Celine F Santiago, Arie Jacoby, Delfine Cheng, Gunjan Trivedi, Stephen Cull, Jasmina Cvetkovska, Renee Chand, Joachim Berger, Peter D Currie, Kelly A Smith, Diane Fatkin
Dilated cardiomyopathy (DCM) is a common heart muscle disorder that frequently leads to heart failure, arrhythmias, and death. While DCM is often heritable, disease-causing mutations are identified in only ~30% of cases. In a forward genetic mutagenesis screen, we identified a novel zebrafish mutant, heart and head ( hah vcc43 ), characterized by early-onset cardiomyopathy and craniofacial defects. Linkage analysis and next-generation sequencing identified a nonsense variant in the highly conserved scfd1 gene, also known as sly1 , that encodes sec1 family domain-containing 1...
September 22, 2023: Journal of Cardiovascular Development and Disease