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Perrault syndrome: working towards new treatments for children with this rare condition

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What did the project achieve?

“Our findings are already helping to improve genetic testing for children with hearing loss around the world,” says Professor Bill Newman of the University of Manchester. “Providing more families with an accurate diagnosis for their child’s health problems removes the need for unnecessary investigations, allows closer monitoring to spot problems earlier – and enables accurate genetic counselling for other family members who may be at risk.”

Perrault syndrome is a rare genetic condition that causes different patterns of symptoms in affected boys and girls. While affected children of both sexes experience hearing loss, girls also have missing ovaries or ovaries that stop working properly.

Changes in at least five genes were already known to causes Perrault syndrome, accounting for around half of all cases. In this project, the team studied information from the 100,000 genomes project, which sequenced all the genes of thousands of patients in England affected with rare diseases and worked with doctors around the world – to look for gene changes in children with unexplained hearing loss and ovarian failure.

“We successfully identified the specific genetic cause in several children who previously had no diagnosis – uncovering changes in four additional genes that cause Perrault syndrome,” says Professor Newman. “Importantly, we also discovered different changes in the same genes that cause a more severe form of the condition affecting a child’s brain and nerves.”

The researchers are also carrying out laboratory studies to gain a better understanding of the biological consequences of all the different gene changes known to cause Perrault syndrome.

“We hope this work will improve the treatment of Perrault syndrome, allowing early interventions for hearing loss and helping girls to manage any potential loss of fertility,” says Professor Newman. “It may also have broader relevance for common forms of severe hearing loss and ovarian failure – paving the way towards the development of effective new treatments in the future.”

This research was completed on

Children with a rare inherited condition called Perrault syndrome may one day benefit from research by Professor Bill Newman of the University of Manchester. Some babies with Perrault syndrome are born deaf; others experience hearing loss that worsens through childhood. Girls with Perrault syndrome can grow up to have fertility problems, which affect their chances of getting pregnant. Professor Newman is investigating the genetic causes of children’s symptoms, with the longer term goal of finding treatments that may one day benefit children with Perrault syndrome and possibly even people who have hearing loss or fertility problems for other reasons too.

How are children’s lives affected now?

Boys and girls with Perrault syndrome have hearing loss due to problems with the nerve signals from the ear (sensorineural hearing loss). Some children are born deaf. Others have hearing loss that begins in early childhood and can worsen over time, sometimes becoming severe.

The condition affects girls in another way too. Girls with Perrault syndrome have missing ovaries or ovaries that stop working properly (known as ovarian failure or primary ovarian insufficiency). Some find they never have periods, while others can have an early menopause. They may have difficulty getting pregnant or be unable to have their own biological children.

“Severe hearing loss in childhood can affect many areas of life,” says Professor Newman. “Speech and language development can be delayed, for example, which can affect children’s education and their social development. For teenage girls, discovering that they may not be able to have children can be devastating. We urgently need a better understanding of what causes these symptoms.”

How could this research help?

Perrault syndrome is a genetic condition. Changes in several different genes have already been found to cause the condition, but they don’t explain all of the cases. The researchers are therefore looking for other genetic changes that cause the condition. They are also investigating how genetic changes might lead to symptoms.

Fewer than 100 people worldwide are known to have been diagnosed with Perrault syndrome, but around one in 500 babies is born with permanent sensorineural hearing loss in both ears and around one in 100 women find they stop having periods before they’re 40 years old because of primary ovarian insufficiency.1-3

“We believe that our research into Perrault syndrome will provide vital insights into the causes of children’s symptoms,” says Professor Newman. “This could one day lead to new treatments that benefit not only children with Perrault syndrome, but also people who have hearing loss or primary ovarian insufficiency for other reasons.”


1. Genetics Home Reference. Perrault syndrome. https://ghr.nlm.nih.gov/condition/perrault-syndrome# Website access 6 August 2016.

2. Smith RJH et al. Deafness and Hereditary Hearing Loss Overview GeneReviews [Internet] Last Revision: January 9, 2014. http://www.ncbi.nlm.nih.gov/books/NBK1434/ Website accessed 6 August 2016.

3. Cordts EB et al. Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet 2011 283: 635-43.





Project Leader Professor William G Newman MA PhD FRCP
Project Team Dr Ray T O'Keefe PhDProfessor Kevin J Munro PhD MScProfessor Julian RE Davis MD PhD FRCP FRSB
Project Location Manchester Centre for Genomic Medicine, University of Manchester
Project Location Other Faculty of Life Sciences, University of ManchesterSchool of Psychological Sciences, University of ManchesterInstitute of Human Development, University of Manchester
Project duration 3 years
Date awarded 21 July 2016
Project start date 1 October 2016
Project end date 31 December 2019
Grant amount £161,875
Grant code GN2494


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