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New Gene for Childhood Deafness Discovered

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RNID funded research has discovered a new gene linked to inherited deafness, which could mean that more families will be able to identify the cause of their hearing loss.

The discovery of this gene will help develop future treatments and, if it is incorporated into standard genetic testing, families with hereditary deafness will be able to more accurately find out the chances of having a child who is deaf and to understand the cause of their family’s deafness.

Hearing loss charity RNID funded Radboud University Nijmegen Medical Centre in The Netherlands to undertake the research. It discovered that changes in the PTPRQ gene can lead to deafness after studying the genetics of families where several members had inherited childhood hearing loss.

The research project compared the DNA of individual family members in order to identify regions in the DNA likely to contain the genes that cause deafness. Using this approach, the researchers discovered this and a further two new deafness-causing genes. All three genes are thought to play an important role in the development of the delicate inner ear hair cell, which is essential for hearing.

Dr Sohaila Rastan, RNID’s Chief Scientific Advisor said: “Knowledge of genes causing deafness tells us more about how our hearing works. This research will help develop medicines that are desperately needed to prevent deafness and restore hearing. ''

Dr Hannie Kremer from Radboud University Nijmegen Medical Centre said: “Our approach is identifying more genes for congenital deafness. This knowledge will help improve treatments for patients, genetic counselling, molecular diagnosis and the development of advanced therapeutic strategies.”

An estimated one child in 750 is born profoundly deaf or with a severe hearing loss. In at least half of these children, the cause of deafness is genetic. Deaf children are vulnerable to delays in development, low academic achievement and are more likely to experience behavioural difficulties and emotional distress.

The research has been published on 9th April in the American Journal of Human Genetics.