Families

What is PRPF8?
PRPF8is a gene that helps cells use their genetic instructions. Every cell copies instructions from a gene and then trims and joins the copy before using it. PRPF8 is part of the machinery that does the trimming and joining.

What conditions are linked to a change in this gene?
Certain changes in PRPF8have been found in people with developmental or learning difficulties. Other changes cause retinitis pigmentosa, a condition affecting the light-sensitive layer at the back of the eye.

The exact genetic change matters. Your genetics team can explain which condition your family's result supports and what remains uncertain. A change in PRPF8does not mean that a person will have every problem described on this website.

How common is it?
These conditions are rare. Only small numbers of people have been described in the medical literature, so there is not enough information to give a reliable figure for how often PRPF8-related developmental difficulties occur.