Friday, January 30, 2026-A groundbreaking DNA study has revealed that a teenage girl who lived in what is now southern Italy about 12,000 years ago had a very rare form of dwarfism caused by a genetic disorder. Scientists analyzed ancient DNA extracted from her skeleton, recovered from Romito Cave, and identified mutations in the NPR2 gene that severely limited her bone growth, particularly in her arms and legs. The condition, known as acromesomelic dysplasia, resulted in pronounced limb shortening and an adult height estimated at around 110 centimeters, far below that of others from the same period.
The teenager, known as Romito 2, had long been a subject of scientific interest, but recent DNA analysis confirmed both her biological sex and the genetic basis of her condition. Researchers determined she was female and buried in close proximity with another shorter-than-average woman referred to as Romito 1. Genetic evidence suggests they were first-degree relatives, most likely mother and daughter or sisters. Romito 1 carried only one altered copy of the same gene, which may explain her shorter stature without the severe disorder seen in Romito 2.
What makes the discovery especially striking is that Romito 2 survived into adolescence despite significant physical limitations. Her remains show no signs of neglect, trauma, or poor nutrition, suggesting she received care and support from her community. The findings challenge long-held assumptions about life for people with disabilities in prehistoric societies and provide rare insight into social care among ancient hunter-gatherers, while also marking the earliest confirmed genetic disease diagnosis in modern human remains.
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