Gene Mutation in Leukemia Patients may Cause Childhood Growth Disorder: Study

A recent study examines how mutations connected to a leukemia gene may also be related to childhood growth disorders. According to new research reports, all children studied and identified with the mutation in their DNA were taller than usual for their age and shared similar facial features and intellectual abilities.

This genetic mutation is referred to as methyltransferase gene, DNMT3A, and has been identified in 13 children by scientists at The Institute of Cancer Research, London. Researchers have now labeled the condition as DNMT3A overgrowth syndrome.

According to the study, scientists believe that the DNMT3A gene is crucial for development as it adds to the 'methylation' marks to DNA that determine exactly where and when genes are active.

As the DNMT3A mutations are already known to occur in certain types of leukemia, these mutations that occur are different from those in DNMT3A overgrowth syndrome as there is no evidence that children with these mutations are at an increased risk of cancer.

Researchers at The Institute of Cancer Research (ICR), with colleagues at St George's, University of London, The Royal Marsden NHS Foundation Trust, and genetics centres across Europe and the US, identified 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 leukaemias," said lead study author Nanzeen Rahman, Head of Genetics and Epidemiology at The Institute of Cancer Research, London, and Head of Cancer Genetics at the Royal Marsden NHS Foundation, via a press release. 

Study co-leader Dr Katrina Tatton-Brown, Clinical Researcher at The Institute of Cancer Research, London, and Consultant Geneticist at St George's, University of London, adds that having proper diagnosis early can help families determine treatments for the future:"Having a diagnosis can make a real difference to families - I recently gave the result back to one of the families in which we identified a DNMT3A mutation and they greatly appreciated having a reason for their daughter's condition after many years of uncertainty."

More information regarding the study can be found via the journal Nature Genetics.