Multimorbidity due to novel pathogenic variants in the<i>WFS1/RP1/NOD2</i>genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family

Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD). Methods WES was performed unaffected affected individuals within pedigree followed bioinformatic analyses these data to identify disease-causing variants damaging pathogenicity scores. Results novel pathogenic missense variant in WFS1 : c.1897G&gt;C; p.V633L, a nonsense RP1 c.6344T&gt;G; p.L2115* predicted NOD 2: c.2104C&gt;T; p.R702W are reported. The three cosegregated phenotypic combinations autosomal dominant CC, RP CD individual members. Conclusions Here, we report multimorbidity listed on CC register, which broadens spectrum potential associated genes include both NOD2 .