Mutations in a gene associated with leukaemia cause a newly described condition that affects growth and intellectual development in children, new research reports. A study led by scientists at The Institute of Cancer Research, London, identified mutations in the DNA methyltransferase gene, DNMT3A, in 13 children. All the children were taller than usual for their age, shared 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 has been called 'DNMT3A overgrowth syndrome'. The research is published today (Sunday) in the journal Nature Genetics and is a part of the Childhood Overgrowth Study, which is funded by the Wellcome Trust, and aims to identify causes of developmental disorders that include increased growth in childhood. The DNMT3A gene is crucial for development because it adds the 'methylation' marks to DNA that determine where and when genes are active. Intriguingly, DNMT3A mutations are already known to occur in certain types of leukaemia. The mutations that occur in leukaemia are different from those in DNMT3A overgrowth syndrome and there is no evidence that children with DNMT3A mutations are at increased risk of cancer.