Rett Syndrome
MECP2 mutation and mortality is influential in Rett syndrome
Published in Health and Medicine Week, December 19th, 2005
"Among cases in the Australian Rett Syndrome Database, the nonsense mutation p.R270X is one of the most commonly occurring single pathogenic MECP2 mutations. In two recent published reports of the MECP2 mutational spectrum the p.R270X appeared to be under represented."
"We hypothesized that increased mortality arising from this mutation may underlie this apparent discrepancy," wrote L. Jian and colleagues of the University of Western Australia.
"We investigated our hypothesis in two independent study groups from Australia and the...
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