Groundbreaking research led by Manchester University NHS Foundation Trust (MFT) and The University of Manchester could revolutionise the diagnosis of Perrault syndrome, a rare genetic condition causing hearing loss and, in women, early menopause or infertility.
This condition can also lead to learning difficulties, developmental delay, and nerve damage.
Researchers from Manchester, Newcastle, Germany, and the USA, in collaboration with clinicians worldwide, have identified changes in two genes, DAP3 and MRPL49, that result in Perrault syndrome. This research, funded by the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC), Action Medical Research, The Royal National Institute for Deaf people (RNID), and the Medical Research Council, has been published in the American Journal of Human Genetics.
Consultant in Genomic Medicine at MFT, Professor Bill Newman, commented:
“Finding the causes of rare conditions like Perrault syndrome are the first steps in understanding why people are affected, providing clearer diagnosis, and developing novel treatments.
“Previously up to half of all people with Perrault syndrome could not have this diagnosis confirmed by a genetic test. These new discoveries through this research will provide an accurate diagnosis to more affected people.”
The journey began in 2011 at The Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, part of MFT. Led by Professor Newman, the team conducted genetic studies on a local family with Perrault syndrome, identifying a novel gene and its changes that led to the syndrome's diagnosis. Subsequent studies have identified eight different genes causing Perrault syndrome.
RNID’s Director of Research, Dr Ralph Holme, added:
“We are delighted to have been able to support this important research.
“As ovarian problems are a key feature of the diagnosis, men are rarely diagnosed even though they have the same risk of being affected. Early, accurate diagnosis can result in improved hearing outcomes.
“Understanding rare types of hearing loss, such as Perrault Syndrome, also gives us important insights that may be relevant to more common forms of hearing loss.”
This research will now be utilised globally to provide accurate diagnoses for those at risk or undiagnosed with Perrault syndrome, offering hope and clarity to many affected individuals and their families.
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