Skip Navigation Links

First 'non-gene' mutations behind neurodevelopmental disorders discovered

A study of almost 8,000 families has found for the first time that mutations outside of genes can cause rare developmental disorders of the central nervous system.

The study, the largest study of its kind, is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders.

Due to their rarity, many of these developmental disorders remain undiagnosed. In 2010 the Deciphering Developmental Disorders (DDD) study was established to find diagnoses for children with unknown developmental diseases using genomics.

So far, around one third of the over 13,000 children in the DDD study have been diagnosed, but two thirds of the families still don’t have answers.

In the latest study, funded by the Health Innovation Challenge Fund, researchers investigated genetic disorders of the central nervous system, such as developmental brain dysfunction that can lead to impaired learning and language.

The team studied the genomes of almost 8,000 child and parent trios, focusing on genes that coded for proteins as well as non-coding parts of the genome that control the switching on and off of genes, known as regulatory elements.

The research, published in Nature, showed that mutations outside of genes, in regulatory elements, can cause these neurodevelopmental disorders. These regulatory elements have been very highly conserved over mammalian evolutionary history, suggesting that they have a critical role in early brain development.

Read more