The Cause of Half of All Developmental Disorders Is a Genetic Mystery
November 8, 2018
(New Scientist) – As for the rest, the leading idea was that they were due to rare recessive mutations – mutations that only have an effect if both copies of a gene have the mutation. But in a study of 6000 children in Europe with developmental disorders, the project has now shown that only 4 per cent of developmental disorders are due to recessive mutations in the protein-coding parts of genes. In other words, around half the cases remain unexplained. “That was a surprise,” says team member Hilary Martin.