A gene is a section of DNA which contains the instructions to make a protein and changes in some of the letters in a gene can cause changes to the protein. This can change the way the protein functions or make it not work at all.
Changes in the gene CLPP can cause Perrault syndrome or a neurological condition.
Perrault syndrome – This is a very rare condition which is inherited recessively meaning an affected individual must inherit two altered copies of a gene, one from each parent. The parents of patients have no symptoms because they have one altered and one working copy of the gene. Both males and females with Perrault syndrome have hearing loss. In addition to the hearing loss women with Perrault syndrome have ovarian problems. Some people with Perrault syndrome can also have neurological symptoms, it is unclear why this happens and it is difficult to predict which people will be affected.
CLPP associated neurological condition – This condition is more severe than Perrault syndrome but is also inherited recessively. People with this condition have hearing loss but also with severe neurological symptoms.