Royal College of Surgeons in Ireland. Department of Cancer Genetics ^Hubs

They present a study on a non-consanguineous Irish family that includes two siblings (male and female) with dilated cardiomyopathy (DCM) and chorioretinopathy. The children have been extensively investigated by the cardiac, metabolic and genetic teams but the genetic basis of their disorder remains unknown. They aimed to identify the disease mutation by sequencing the exome of the two affected children and their healthy sibling. The data was analysed assuming a recessive model to identify mutations that were uniquely shared by the affected children. One novel heterozygous mutation was identified in the exome data of one patient, but the sequencing coverage was not sufficient to determine the genotype of the second patient. Sanger sequencing was undertaken and showed that both affected children were heterozygous for the maternally-inherited mutation.