A teenager who lived in Italy roughly 12,000 years ago had a rare genetic disorder that substantially shortened her limbs,a new study reveals. This marks the earliest known DNA diagnosis of a genetic disease in a human.

Ancient DNA Reveals Teenage Girl’s Rare Genetic Condition

Researchers identified a specific gene mutation causing acromesomelic dysplasia in a Stone Age skeleton, offering unprecedented insight into the health of our ancestors.

  • The discovery represents the first confirmed genetic diagnosis from ancient DNA.
  • The teenager, nicknamed “Romito 2,” suffered from acromesomelic dysplasia, maroteaux type (AMDM), a condition impacting bone growth.
  • DNA analysis also revealed Romito 2 was female and related to another individual found in the same cave.
  • The findings suggest this community provided care for individuals with genetic conditions.

The analysis of skeletal remains unearthed in 1963 from the Romito Cave in southern Italy pinpointed the cause of the teenager’s condition: mutations in the NPR2 gene, crucial for bone development. “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 sci

The genetic condition, acromesomelic dysplasia, specifically the Maroteaux type (AMDM), affects bone growth, resulting in shortened limbs and other skeletal abnormalities. This would have presented notable challenges with movement and daily activities due to these limitations.

What challenges did Romito 2 likely face? The genetic condition would have limited her ability to travel long distances and perform tasks requiring fine motor skills, impacting her daily life.

The genetic material also placed Romito 1 and Romito 2 within the Villabruna genetic cluster, a population of hunter-gatherers who migrated from Southern Europe into Central and western Europe around 14,000 years ago. The researchers found no evidence of inbreeding, though they acknowledge the population near Romito Cave was likely small.

The cause of death for both individuals remains unknown, as their remains showed no signs of trauma. However, Romito 2’s diet and nutritional status were comparable to others buried in the cave, suggesting her community provided support and care. “the challenges she faced were met by the provision of care in her family group,” the researchers concluded.

Fernandes, D. M., Llanos-Lizcano, A., Brück, F., Oberreiter, V., Özdoğan, K. T., Cheronet, O., Lucci, M., Beckers, A., Pétrossians, P., Coppa, A., Pinhasi, R. & Daly, A. F.(2026). A 12,000-year-old case of NPR2-related acromesomelic dysplasia. The New England Journal of Medicine. https://doi.org/10.1056/NEJMc2513616