What does the PRPF8gene do?
Genes are instructions for making and maintaining the body. PRPF8helps process the messages copied from genes before cells use them. A harmful change can interfere with this process.
How is the condition inherited?
For a confirmed dominant PRPF8condition, a change in one of the two copies of the gene can be enough to cause it. If a parent carries that change, each pregnancy has a 1 in 2 chance of inheriting it.
When neither parent carries the change on blood testing, the chance of another affected child is usually low, but not zero. Genetic counselling can explain what your family's result means.
One family has been reported in which children had a change in both copies of the gene together with developmental difficulties. This possible second pattern of inheritance still needs confirmation.
What does an uncertain result mean?
Some genetic changes have an uncertain meaning. A result of this kind does not, on its own, confirm that PRPF8explains a person's difficulties. Uncertain results are reviewed again as knowledge improves.
PRPF8