12,000-Year-Old Italian Skeleton Reveals Rare Genetic Disorder
DNA analysis of a 12,000-year-old skeleton from Italy identifies a rare form of dwarfism, marking the earliest known genetic diagnosis in modern humans.
A recent DNA analysis of a 12,000-year-old skeleton from the Romito Cave in southern Italy has identified a rare genetic disorder, acromesomelic dysplasia, Maroteaux type (AMDM), in a teenage girl. This finding represents the earliest known genetic diagnosis in an anatomically modern human.
The individual, referred to as "Romito 2," exhibited significant limb shortening characteristic of AMDM, a condition caused by mutations in the NPR2 gene, which is crucial for bone growth. The study, published in The New England Journal of Medicine, indicates that Romito 2's mobility and daily activities would have been notably affected by her condition.
DNA testing also revealed that Romito 2 was buried alongside an adult female, "Romito 1," who was identified as her first-degree relative, likely her mother or sister. Romito 1 carried one abnormal copy of the NPR2 gene, which may have contributed to her shorter stature of 4 feet, 9 inches (145 cm). In contrast, Romito 2, who had two abnormal copies of the gene, stood at approximately 3 feet, 7 inches (110 cm).
The analysis confirmed that both individuals belonged to the Villabruna genetic cluster, a group of hunter-gatherers that expanded across Europe around 14,000 years ago. Despite Romito 2's physical challenges, her diet and nutritional status were comparable to others buried in the cave, suggesting that her community provided care and support. The researchers noted that "the challenges she faced were met by the provision of care in her family group."