[Source: Science Daily]

The international research collaboration, led by the Murdoch Children’s Research Institute (MCRI) and published in the American Journal of Human Genetics, has linked a recognised tumor suppressor gene to a new neurodevelopmental syndrome, ending the diagnostic journey for 32 families around the world.

The study found variations in the FBXW7 gene were associated with the newly identified condition, which causes mild to severe developmental delay, intellectual disability, hypotonia and gastrointestinal issues.

Murdoch Children’s researcher Dr Sarah Stephenson said because the FBXW7 gene regulated the life-cycle of cells, cell growth and survival, the research team speculated that abnormal cell proliferation during brain development may underpin the broad spectrum of brain abnormalities identified in this new disorder.

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