Gene that causes deafness in children discovered

April 09, 2010 05:57 pm | Updated 05:57 pm IST - London

A child with a hearing disability reacts during a function at a school for the deaf and mute in Mumbai. Scientists in Netherlands have discovered the gene PTPRQ which they believe is responsible for congenital deafness. File photo

A child with a hearing disability reacts during a function at a school for the deaf and mute in Mumbai. Scientists in Netherlands have discovered the gene PTPRQ which they believe is responsible for congenital deafness. File photo

A gene that causes children to be born deaf has been discovered which scientists say could help in developing medicines to treat the condition in future.

The research conducted in The Netherlands found the gene, called PTPRQ, which appears to play a role in the development of the inner ear “hair cell” before the birth of the child.

A genetic fault here means that these cells will not form properly or in sufficient numbers, leading to profound deafness or extremely poor hearing, the BBC reported.

This can lead to problems throughout childhood, including behavioural and developmental difficulties, and low academic achievement, the researchers said.

According to them, there are now more than 60 known locations in our DNA which can contain faulty genes contributing to this form of deafness, although only half the genes in these locations which actually cause the problem are yet to be identified.

Dr. Hannie Kremer, who led the research, 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.”

One child in 750 is born with severe hearing loss or profound deafness and this study means parents with the hereditary condition would be able to predict more accurately the chances of passing it on to their children, the scientists said.

Dr. Sohaila Rastan, at British charity Royal National Institute for the Deaf (RNID) that funded the research, 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.”

There are hopes that gene therapy will one day be able to correct genetic defects linked to this type of deafness.

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