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SCIENTISTS have discovered the exact cause of a rare genetic disorder that produces children with fragile bones, skull deformities, hearing loss and myopia. The team – led by a Singapore-based geneticist – has pinpointed the mutation that leads to Hamamy syndrome. It occurs in a gene called IRX5, which is key to the normal development of the head, bones, eyes and several other organs in people and animals. This is the first time a mutation in the IRX family of genes has been found in humans. The team’s work could help scientists understand how the body develops, and point the way to treatments for osteoporosis, heart disease and anaemia.
The group is made up of scientists from Singapore, Britain, the United States, Jordan, Turkey and Switzerland. Its leader is Dr Bruno Reversade, a Frenchman who works at the Agency for Science, Technology and Research’s (A*Star) Institute of Medical Biology (IMB). The team also includes Professor Hanan Hamamy, who first identified the syndrome in Jordan in 2007. Its work was published on Sunday in the top science journal Nature Genetics.
To date, just six children from two families in Jordan and Turkey have been diagnosed with the disorder, which is associated with marriages between closely related people such as double first cousins. “We’re hoping there will be more clinicians who have seen this syndrome across the world, who will contact us to see if we can help with the genetic diagnosis,” said Dr Reversade. His team can provide prenatal diagnosis for at-risk families, to test whether their unborn children will be afflicted. But beyond the handful of patients, there are wider implications.
The IRX5 gene is involved in the development of so many organs that being able to understand and control it could lead to new ways to control other disorders, he explained. IMB executive director Birgitte Lane called the work “an important piece of research”. It is of interest to scientists and clinicians because of its wide-ranging clinical and genetic insights, she said.