Researchers from Newcastle University in the UK have ended a 15-year search for the gene that causes the rare Cornelia de Lange Syndrome. (CdLS).
CdLS affects just one in 40,000 live births but can be devastating, with affected youngsters having growth problems, missing or deformed limbs, gastro-intestinal disorders, seizures, cardiac problems, neurological, learning and behavioural difficulties and oro-dental issues.
Doctors in the USA and Europe knew that there was likely to be a rogue gene that caused the syndrome but despite more than 15 years of searching it hadn’t been found.
But there has now been a breakthrough by a team led by Professor Tom Strachan, at Newcastle University’s Institute of Human Genetics. They report in Nature Genetics that the gene has been located to chromosome five.
Alan Peaford | alfa
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