A novel mutation in <i>KIAA0196</i>: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

Abstract

We have identified a mutation in KIAA0196 as the cause of the form of RSS characterised in our cohort. The ubiquitous expression and highly conserved nature of strumpellin, the product of KIAA0196, is consistent with the complex and multisystem nature of this disorder.