ea0059oc1.4 | Translational highlights | SFEBES2018
Stevenson Mark
, Pagnamenta Alistair T
, Reichart Silvia
, Mennel Stefan
, Philpott Charlotte
, Lines Kate E
, Gorvin Caroline M
, Lhotta Karl
, Taylor Jenny C
, Thakker Rajesh V
Whole genome sequencing (WGS) has the potential to identify nearly all forms of genetic variation. In complex disorders with multiple manifestations WGS can establish a definitive diagnosis that may change clinical management (Stavropoulos et al. 2016 Genomic Med). Here, we report on the utility of WGS in establishing the correct diagnosis in a family with hyperuricaemia. Hyperuricaemia may occur as: part of a syndromic disorder (e.g. Lowe syndrome, renal col...