Ancient DNA Reveals 12,000-Year-Old Case of Rare Genetic Disorder

A 12,000-year-old double burial in Grotta del Romito, southern Italy, has provided the earliest known genetic diagnosis of a rare growth disorder. The remains, discovered in 1963, include an adolescent, "Romito 2," and an adult female, "Romito 1," buried in an embrace. Recent DNA analysis has revealed that both individuals were female and closely related, most likely mother and daughter.

Romito 2 exhibited significantly shortened limbs and stood approximately 110 cm tall. Genetic testing identified a homozygous mutation in the NPR2 gene, confirming a diagnosis of acromesomelic dysplasia, Maroteaux type—a rare inherited disorder characterized by severe short stature and limb shortening. Romito 1 carried a single altered copy of the same gene, associated with a milder form of short stature, explaining her height of about 145 cm.

Despite her physical limitations, Romito 2 survived into adolescence or adulthood, suggesting she received consistent support from her community. Alfredo Coppa of Sapienza University of Rome, a co-leader of the study, stated:

"We believe her survival would have required sustained support from her group, including help with food and mobility in a challenging environment."

This discovery underscores that rare genetic diseases have been present throughout human history. Adrian Daly of Liège University Hospital Centre noted:

"Rare genetic diseases are not a modern phenomenon but have been present throughout human history. Understanding their history may help recognizing such conditions today."

The findings highlight the deep history of rare diseases and the social care practices of prehistoric communities.