Exome sequencing to identify the underlying causative genes in four families having unusual cardiac phenotypes

In four families with clear evidence of inherited cardiac disease and unique phenotypes, conventional candidate gene approaches had failed to identify the underlying cause of disease. Whole exome sequencing, in combination with linkage analysis has allowed us to identify the genetic cause of disease in the majority of families. Functional studies are now ongoing to gain further insight into the disease mechanisms.  

Publications linked to this award:

1. Ehsan M, Jiang H, Thomson K, Gehmlich K. When signalling goes wrong - pathogenic variants in signalling proteins causing cardiomyopathies. J Muscle Res Cell Motil. 2017
2. Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K. Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. Epub 2016 Sep 13.