Five new genetic diseases identified

Tuesday January 9th, 2018

Five new genetic diseases have been identified, paving the way for potential new treatments, it was announced last night.

The diseases that have been discovered are believed to affect more than 1 in 5,000 children and cause combinations of developmental delay, as well as problems with growth, heart, kidney and other organs.

Writing in the American Journal of Human Genetics, Dr Siddharth Banka, of The University of Manchester, UK, and the Manchester Centre for Genomic Medicine, Saint Mary's Hospital, said the histone lysine methylation disorders are the result of abnormalities in master regulators.

Although there are no epidemiological studies, the team believe at least one in every 5,000 children are affected.

Dr Victor Faundes studied genetic variants in histone lysine methylases and demethylases (KMTs and KDMs) and compared them with genetic variants in children with developmental problems and the general population.

He said: “I found that some specific types of genetic changes that interfere with function of some KMTs and KDMs were commoner in children who had problems with development of their brains or other organs.

“These results tell us that KMT and KDM mutations explain the diagnosis in a disproportionately large number of children with developmental disorders.

“This is an important discovery because we already know that some drugs can control the activity of KMTs and KDMs and thus could be potential treatments for these conditions.”

Dr Banka said not only has the discovery provided an idea of the scale of the problem, it has also resulted in the discovery of five new genetic disorders.

“Our findings have helped in providing diagnoses in children in whom the underlying cause for their medical condition was previously a mystery,” he said.

The team is now looking at conducting more detailed studies to understand the biological link between the mutations and the clinical problems.

Faundes V, Newman W, Bernardini L et al. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. AJHG 8 January 2018; doi: 10.1016/j.ajhg.2017.11.013 [abstract]

Tags: Child Health | Genetics | UK News

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