Analysis of ancient DNA has revealed that rare genetic diseases already existed in prehistoric times. A study of remains found in southern Italy, dating back more than 12,000 years, identified a growth disorder in an adolescent individual.

Discovery and Burial Features

In 1963, a double burial from the Upper Paleolithic era was discovered in the Grotta del Romito cave in southern Italy. The grave contained two individuals: an adolescent with noticeably shortened limbs, previously thought to be male, and an adult, previously identified as female. The adolescent was laid across the arms of the adult. No signs of trauma were found on the bones. The adolescent’s height was about 110 centimeters, while the adult measured around 145 centimeters, both shorter than the average for that period.

Genetic Analysis

For many years, experts debated the sex, relationship, and reasons for the short stature of these individuals. An international team of researchers extracted ancient DNA from the temporal bones of both skeletons—an area known for preserving genetic material well. The analysis showed that both individuals were female and closely related, most likely mother and daughter.

Genetic study of the genes responsible for bone growth revealed that the adolescent (Romito-2) had a homozygous mutation in the NPR2 gene, which plays a key role in bone development. This mutation is characteristic of acromesomelic dysplasia, Maroteaux type—a rare hereditary disorder marked by pronounced short stature and significant shortening of the limbs. This is the earliest genetically confirmed diagnosis of such a condition.

The adult woman (Romito-1) was found to have only one altered copy of the same gene, which is associated with a milder form of short stature. This explains the difference in height between the two women.

Significance of the Discovery

The study demonstrates that rare genetic diseases have existed throughout human history and are not solely a modern phenomenon. Additionally, the findings indicate the presence of care and social support in Ice Age communities. The adolescent with a severe disorder survived into adolescence or possibly adulthood, suggesting ongoing assistance from those around her, including help with food and mobility. The fact that she was buried in her mother’s embrace further supports this interpretation.