Gene variants linked to syndrome that causes hearing loss and infertility

New genes have been linked to a rare genetic condition that causes hearing loss in women and men, and early menopause and infertility in women.

An international team of researchers has identified eight new genes associated with Perrault syndrome, a recessive genetic disorder which causes hearing loss in children and can lead to infertility due to ovarian insufficiency in women. As well as aiding in research for new treatments, this new discovery could help doctors to identify the disease earlier allowing young women to explore fertility options.

Lead author Professor Bill Newman, from the University of Manchester, said: 'As girls do not usually receive this diagnosis until puberty, earlier diagnosis would help young women to make decisions about preserving their eggs before menopause, to allow reproduction options later in life. Babies with significant hearing loss will now be screened for changes in these genes so that we can identify earlier if they have Perrault syndrome. This has potential life-changing impact for families.'

The research, published in the American Journal of Human Genetics, was originally started ten years ago when a local family with Perrault syndrome participated in genetic studies at Saint Mary's Hospital in Manchester. A new gene linked to the disease was identified in this family, however, other families with this condition did not share changes in the same gene. This led researchers to look for other genes that could also be linked to the condition.

By carrying out whole genome sequencing of members of four families which had members with the condition, researchers identified eight new gene variants which some of them shared.

The eight newly identified genes are important in the functioning of mitochondria, the part of the cell that produces energy. Dysfunctional mitochondria can cause problems in many organs and researchers believe that this could be responsible for the hearing and ovarian problems associated with Perrault syndrome.

Dr Ralph Holme director or research and insight at the Royal National Institute for Deaf People commented 'We are delighted to have been able to help fund this important research. Not only will it directly benefit families with this specific type of hearing loss, but a deeper understanding of the biological processes involved in hearing are likely to have wider implications, providing insights into more common forms of hearing loss.'

'Not only can the identification of these genes assist in earlier diagnosis of Perrault syndrome, it could also aid in the development of new treatments and even personalised treatments' said Professor Newman.