AsianScientist (May 21, 2012) – An international team of researchers, led by scientists in Singapore, has identified the genetic cause of a rare genetic disorder known as Hamamy syndrome.
Hamamy syndrome is a genetic disorder which is marked by abnormal facial features and defects in the heart, bone, blood, and reproductive cells. Only a handful of people in the world have been identified with Hamamy Syndrome making it a very rare genetic disorder.
The exact cause of this disease had eluded researchers until now. In a paper which was published online last week in Nature Genetics, the Singapore-led team showed that Hamamy Syndrome was caused by a mutation in the IRX5 gene.
“Because Hamamy syndrome causes a wide range of symptoms, not just in newborn babies but also in the adult, this implies that IRX5 is critical for development in the womb as well as for the function of many organs in our adult body,” said lead author Carine Bonnard.
“This discovery of the causative gene is a significant finding that will catalyze research efforts into the role of the Irx gene family and greatly increase our understanding of human health, such as bone homeostasis, or gamete formation for instance.”
The paper can be found at: Bonnard (2012) Mutations In IRX5 Impair Craniofacial Development And Germ Cell Migration Via SDF1.
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Source: A*STAR. Photo: Reversade Laboratory (A*STAR).
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