Tuesday, August 25, 2015

The Gruber lab has just published a collaborative paper that combines novel techniques in genetic analysis to identify disease-causing variants.

Wolff–Parkinson–White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2 have been identified as causative for WPW. DNA samples from five members of a multi-generational family with WPW were analyzed by exome sequencing. The group identified Of these 11 variants. However, only one, MYH6 p.E1885K, segrated. It is novel, predicted to be deleterious, and potentially alters the structure of a highly conserved functional domain. This coiled-coil myosin heavy chain tail region is responsible for interactions between myosin molecules and provides the structural backbone of the thick filament. This result underscores the high degree of genetic heterogeneity in this condition.

• Full article text available here.