PRPF8

This website provides information on people with a variant in the PRPF8gene, including clinical data, molecular data, management and research options.

Variants in PRPF8are associated with two distinct presentations. Heterozygous variants have been reported in people with developmental and learning difficulties. A separate group of variants clustering near the C-terminus of the protein causes autosomal dominant retinitis pigmentosa type 13 (RP13), an inherited condition of the light-sensitive layer at the back of the eye.

A finding in PRPF8does not mean that a person will have every feature described on this website, and a neurodevelopmental diagnosis does not, by itself, establish that retinal disease will develop.

Published cohorts remain small. More patient data are needed to describe the clinical spectrum of PRPF8-related neurodevelopmental disorder in detail, to clarify which variants carry ophthalmic risk and to establish natural history.

This website was created to share and collect information about clinical features, management and research projects, so that people with a variant in the PRPF8gene can be counselled and cared for more accurately.

We invite clinicians who have identified a variant in PRPF8in a patient to submit their data to the database.

Himanshu Goel, MBBS, MD, DM, FRACP, Hunter Genetics, Hunter New England Local Health District, Newcastle, New South Wales, Australia, himanshu.goel@health.nsw.gov.au