Rare genetic disease discovered by US researchers

WASHINGTON, Sept 30 (AFP) - Researchers have discovered a rare disease caused by a gene mutation that often kills children before the age of two, according to an article released Thursday by the journal Cell.
Researchers at Children's Hospital Boston, the Howard Hughes Institute and the University of Utah said the syndrome included genetic heart defects, webbed hands and feet, a weakened immune system and autism.
The syndrome comprises such a broad array of problems because the defect covers a very fundamental type of calcium channel.
Only 17 children are known to have had the disease. Seven of these are living, according to the report.
Study author Mark Keating likened the calcium channel to a screen door.
"After you go through the screen door, it automatically closes," he said.
"This mutation dismantles the automatic closing mechanism, so the door just stays open."
Calcium is one of the most important molecules in the body, and its influx affects heart muscle, gastrointestinal tissues, lungs, smooth muscle and the brain, especially in areas known to be associated autism.
The disease is named Timothy syndrome, after one of the paper's authors.