First evidence of genotype-phenotype correlations in Gorlin syndrome

Gorlin syndrome (GS) is a genetic disease that causes affected people to develop skin tumours and puts them at risk of other tumours as well as other abnormal features of skin and bone. Most cases of GS are caused by gene changes in the PTCH1 gene, while fewer cases are caused by changes in the related gene, SUFU. In other cases it is unknown what gene change is causing the disease. In our study, we have found that several features of GS may be explained by the specific type of gene change causing their disease. (By Dr. Miriam J. Smith, http://jmg.bmj.com/content/early/2017/06/08/jmedgenet-2017-104669 )