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Gene that causes deafness discovered

Posted Apr 13 2010 10:04am

newborn baby.jpg
A gene has been discovered that causes children to be born deaf and could lead to new medicines to treat the condition, it has been announced.

The discovery could lead to new tests to identify if deafness in their family is genetic and therefore if any future children would be at risk.

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.

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.”

The research was published in the American Journal of Human Genetics.

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