Novel mutations in PRPF31 gene cause retinitis pigmentosa

A mechanism of novel mutation in genetic disease retinitis pigmentosa have been determined using combined bioinformatic and clinical methods.

Change in PRPF31 gene at position c.341T>A was found in a patient with advancing retinal degeneration. Mutations in that gene are common in the disease, but sequenced modification was never encountered before.

To determine an eventual causal relationship, a clinic conducted a bioinformatic analysis of influence on a protein product and its function, coupled with experiments on cell lines. The results pointed to evident impact on retinal cells, which even die in consequence of the mutation.

More: “A combined in silico, in vitro and clinical approach to characterise novel pathogenic missense variants in PRPF31 in retinitis pigmentosa”, G. Wheway et al., 2018, doi.org/10.1101/480343.