Perrault syndrome: working towards new treatments for children with this rare condition
Published on 4 October 2016
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|
|Location||Manchester Centre for Genomic Medicine, University of Manchester|
|Grant awarded||21 July 2016|
|Start date||1 October 2016|
|End date||31 December 2020|
We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP. Please see our useful links page for some links to health information, organisations we are working with and other useful organisations. We hope you will find these useful. We are not responsible for the content of any of these sites.