<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa

Abstract

A putative severe branchpoint variant in <i>BBS1</i>, together with a mild missense variant, underlies non-syndromic RP in four unrelated individuals. To our knowledge, this is the first report of a pathogenic branchpoint variant in IRDs that results in a complex splice defect. In addition, this research highlights the importance of the analysis of non-coding regions in order to provide a conclusive molecular diagnosis.