Researchers identify gene mutation that can cause key-hole shape


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Researchers identify gene mutation that can cause key-hole shape defect in eye


Date: 25/06/2015

A scientific collaboration between researchers from The University of Manchester at the Manchester Centre for Genomic Medicine (MCGM), and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

The condition is known as inherited retinal dystrophy associated with ocular coloboma. 

Coloboma is one of a number of developmental genetic disorders that collectively represent important causes of visual disability affecting one in 4000 people in the western world.  Results of this study, which was funded in the UK by charities Fight for Sight and RP Fighting Blindness, could help scientists better understand the link between genetics and disease, and speed up the rate at which patients with this group of conditions are diagnosed. The work also provides fundamental insights into the earliest genes that are required to control the development of the eye.

This European research consortium identified a mutation in the miR-204 gene as being responsible for the condition, and the findings were published in the 
PNAS journal.

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Source: University of Manchester

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