A Stone Age individual buried 12,000 years back in a collapse Italy had an unusual congenital disease that reduced her limbs, a brand-new research study discovers.

A DNA analysis of her skeleton exposed that she was a teenage lady who had an uncommon type of dwarfism. The finding is the earliest DNA medical diagnosis of a hereditary illness in an anatomically contemporary human, the scientists stated.

“As this is the earliest DNA confirmed genetic diagnosis ever made in humans, the earliest diagnosis of a rare disease, and the earliest familial genetic case, it is a real breakthrough for medical science,” research study co-author Adrian Dalya doctor and scientist in endocrinology at the University

Hospital of Liège in Belgium, informed Live Science in an e-mail. “Identifying with near certainty a single base change in a gene in a person that died between 12,000 and 13,000 years ago is the earliest such diagnosis by about 10 millennia.”

Scientists discovered that the teen– nicknamed “Romito 2,” after the cavern where her remains and those of 8 other ancient hunter-gatherers were found in 1963– had an uncommon congenital disease called acromesomelic dysplasia, Maroteaux type (AMDM). This condition leads to a severe reducing of the limbs, especially the lower arms, forelegs, hands and feet.

AMDM is triggered by anomalies on both chromosomes of the NPR2 gene, which plays an essential function in bone development. As an outcome of her condition, Romito 2 “would have faced challenges in displacement over distances and terrain, while movement limitations at the elbow and hands would have affected her daily activities,” Daly and his coworkers composed in the research study, which was released Wednesday (Jan. 28) in The New England Journal of Medicine

Romito 2 was around 3 feet, 7 inches (110 centimeters) high. Contrary to previous research study that proposed the skeleton was male, DNA screening utilizing product gathered from the left inner ear exposed Romito 2 was female. She was buried in a welcomed position with an adult nicknamed “Romito 1,” who was likewise interred in the limestone Romito Cave in southern Italy.

DNA screening likewise revealed that Romito 1 was female and a first-degree relative of Romito 2, suggesting they were mom and child, or possibly sis. Intriguingly, Romito 1 was much shorter than average for grownups at the time, determining 4 feet, 9 inches (145 cm) high.