Genetic Study Identifies Disease in 12,000-Year-Old Remains

VIENNA, AUSTRIA—According to a statement released by the University of Vienna, an international team of researchers has identified a rare genetic condition in the remains of a mother and daughter who were buried in an embrace in the same grave more than 12,000 years ago. The burial was discovered in 1963 at Grotta del Romito in southern Italy. Romito 1, the remains of a woman who stood under five feet tall, held the remains of Romito 2, an adolescent girl with pronounced limb shortening, and an estimated height of about 3.5 feet. DNA analysis also showed that the daughter carried two copies of a variant in the NPR2 gene, confirming a diagnosis of acromesomelic dysplasia, Maroteaux type, a rare inherited disorder characterized by short stature and shortening of the limbs. “We believe her survival would have required sustained support from her group, including help with food and mobility in a challenging environment,” said Alfred Coppa of Sapienza University. Her mother was found to have one copy of the gene variant, accounting for her milder short stature. “Rare genetic diseases are not a modern phenomenon but have been present throughout human history,” commented team member Adrian Daly of Liège University Hospital Center. To read about Paleolithic burials in a cave in northwestern Italy, go to "Ice Age Necropolis."