An international team of researchers has identified genetic changes associated with a rare hereditary growth disorder in two individuals who lived more than 12,000 years ago in southern Italy. The study combined ancient DNA analysis with modern clinical genetic approaches, allowing scientists to diagnose this condition in two people buried together.

Study of the Grotta del Romito Burial

The research is based on the analysis of remains from a well-known Upper Paleolithic burial discovered in 1963 in the Grotta del Romito cave. For decades, this site has attracted the attention of specialists due to the unusual features of the skeletons and the manner in which the two individuals were buried. Questions about their relationship and the reasons for their short stature have long been debated.

Description of the Discovery

The two individuals were buried in an embrace. One of them, referred to as "Romito 2," was an adolescent or young adult with noticeably shortened limbs and a height of about 110 cm, consistent with a rare skeletal disorder known as acromesomelic dysplasia. The other, "Romito 1," was likely an adult woman with a height of around 145 cm, also below the average for that era. No signs of trauma were found on the bones.

Genetic Analysis

To further investigate, ancient DNA was extracted from the temporal bones of both skeletons. The analysis revealed that the two individuals were close first-degree relatives, most likely mother and daughter. Genetic testing confirmed that both were female. "Romito 2" was found to have a homozygous mutation in the NPR2 gene, which plays a crucial role in bone development. This supports the diagnosis of Maroteaux-type acromesomelic dysplasia—a rare inherited disorder characterized by pronounced short stature and shortened limbs. "Romito 1" had one altered copy of the same gene, which is associated with a milder form of short stature.

Significance of the Findings

The results show that rare genetic diseases existed in prehistoric populations. The use of ancient DNA analysis makes it possible to identify specific mutations in ancient humans, helping to determine when such conditions first appeared and to discover previously unknown variants.

Social Aspects

Despite severe physical limitations, "Romito 2" survived into adolescence or adulthood, indicating the presence of sustained care and social support within her community. Her survival was likely made possible by the help of the group, including assistance with food and mobility in the challenging environment.

Main Conclusions

• The two individuals buried together in southern Italy were close relatives, most likely mother and daughter.
• The younger individual had two altered copies of the NPR2 gene, confirming the diagnosis of Maroteaux-type acromesomelic dysplasia.
• The older individual had one altered copy of the same gene, associated with a milder form of short stature.
• Rare genetic diseases existed in prehistoric populations and can now be studied through paleogenomics.
• The survival of the younger individual despite severe physical limitations indicates the presence of sustained care and social support in her community.