Genetic cause uncovered for extreme form of dwarfism

Genetic cause uncovered for extreme form of dwarfism. Two Sussex scientists have identified a gene that causes an extreme form of dwarfism, known as primordial dwarfism. The findings, published on Sunday (27 February) , shed light on how human body size is determined, and for the first time make a direct link between the copying of DNA in cells and body growth. Dr Mark O'Driscoll and Professor Penny Jeggo at the Sussex Genome Damage and Stability Centre, together with a colleague at the MRC Human Genetics Unit in Edinburgh, reveal that the gene ORC1 plays a key role in triggering the copying of DNA. This discovery could open up new avenues of research into how growth disorders occur and offer people with severe growth disorders a chance of better and earlier diagnosis. Primordial dwarfism is a group of incredibly rare growth disorders that significantly limits growth at every stage of life, from before birth to adulthood, and includes the smallest people in the world (with an adult height of as little as one metre). Many of those with primordial dwarfism have small ears and no knee caps.