LAUSR

along with two copy number variants (CNVs) and findings consistent with parental consanguinity. The co-occurrence of two genetic disorders, discovered for the first time in the seventh decade of life, is rare. Approximately 2% of patients with molecularly confirmed genetic kidney disease may have dual diagnoses; rates are similar with other organ systems too. To our knowledge, this is the first reported co-occurrence of Usher syndrome and MYH9-related disorder. Usher syndrome, a ciliopathy, is not linked to renal disease, but is the most common genetic cause of combined deafness and blindness. MYH9-related disorder is associated with thrombocytopenia, giant platelets, sensorineural deafness and proteinuric glomerulonephritis. Polymorphisms in the MYH9 gene have associations with diabetic kidney disease and HIV-associated nephropathy. This case demonstrates that genetic diagnoses can be made at any age, not just in the young. Additionally, it illustrates that multiple molecular diagnoses may in fact be responsible for multisystem involvement. WGS is useful especially in such clinically heterogenous presentations, and since the technology adopts an unbiased approach to molecular diagnosis, it can sometimes reveal unexpected results. This case report demonstrates the pivotal role of WGS in providing a comprehensive analysis of the entire genome for unravelling complex genetic disorders.