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Children's Health Channel
Reported March 11, 2014

Leukemia Gene Linked to New Childhood Growth Disorder

(Ivanhoe Newswire) – Mutations in a gene associated with leukemia cause a new condition that affects growth and intellectual development in children, according to new research at The Institute of Cancer Research (ICR) in London.

The scientists identified mutations in the DNA methyltransferase gene, DNMT3A, in 13 children. All the children were taller than usual for their age, had similar facial features, and had intellectual disabilities. The mutations were not present in their parents, nor in 1,000 controls from the UK population. The new condition is called “DNMT3A overgrowth syndrome”.

Researchers at ICR, with colleagues at St. George's, University of London, The Royal Marsden NHS Foundation Trust, and genetics centers across Europe and the US, identified the mutations after analyzing the genomes of 152 children with overgrowth disorders and their parents.

“Our findings establish DNMT3A mutations as the cause of a novel human developmental disorder and add to the growing list of genes that appear to have dual, but distinct, roles in human growth disorders and leukemias,” study leader Professor Nazneen Rahman, Head of Genetics and Epidemiology at The Institute of Cancer Research, London, was quoted as saying.

For more information, go to: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2917.html

SOURCE: Nature Genetics, March 2014

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