US EditionAncient DNA Reveals 12,000-Year-Old Case of Rare Genetic Disease
Ancient DNA from a double burial confirms a rare inherited skeletal growth disorder in a mother and daughter, revealing early evidence of genetic diseases in prehistoric humans.
- On Jan. 28, researchers led by the University of Vienna and Liège University Hospital Centre identified genetic variants linked to a rare growth disorder in two individuals buried at Romito Cave, southern Italy.
- The team identified NPR2 mutations causing acromesomelic dysplasia, Maroteaux type, with Romito 2 carrying two altered copies and Romito 1 one altered copy linked to milder short stature.
- DNA testing from the petrous part of the temporal bone showed Romito 2, adolescent with pronounced limb shortening, was female and about 110 cm tall, while Romito 1, adult female, measured 145 cm.
- Evidence of social care shows Romito 2's diet matched others at Romito Cave, and researchers wrote her challenges were met by care within her family group.
- By pushing diagnosis back about 10 millennia, paleogenomics identifies a single base change in a person who died between 12,000 and 13,000 years ago from the Villabruna genetic cluster.
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12,000-Year-Old Skeleton Found in Italy Shows Evidence of Rare Dwarfism
Daniel Fernandes preparing to take a sample from skeleton of Romito 2. Credit: Adrian Daly / University of Vienna A 12,000-year-old skeleton uncovered in a cave in southern Italy has revealed one of the earliest known cases of rare dwarfism in humans, according to a new genetic study. The individual, a teenage girl, showed signs of a severe growth disorder that affected the development of her arms and legs. Researchers identified the condition a…
Genetic variants associated with rare inherited growth disorder identified in two prehistoric individuals
Researchers led by the University of Vienna and Liège University Hospital Centre have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who lived more than 12,000 years ago.
Ancient DNA reveals 12,000-year-old case of rare genetic disease
Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who lived more than 12,000 years ago. Using ancient DNA analysis and modern clinical genetics, they diagnosed the condition in a mother and daughter buried together in southern Italy. Published in the New England Journal of Medicine, the study shows that …
More than 12,000 years ago, a mother and her daughter were buried together, embraced, in the Grotta del Romito, a cave of natural limestone in the Lao del Pollino Valley National Park, near the city of Papasidero, in Calabria (southern Italy).And they were not only family.They also shared a rare genetic disease.Keep reading...
Teenage girl who lived in Italy 12,000 years ago had a rare form of dwarfism, DNA study shows
In 1963, researchers unearthed two Stone Age skeletons that were buried in an embraced position in a cave in Italy. Now, DNA testing has revealed that one of them had a rare genetic condition.
Researchers found the skeleton of a person of the Age of the buried Stone 12000 years ago in a cave in Italy. According to the study, the skeleton was of a teenager with a rare form of nasmism. The discovery was made after an analysis of DNA, which revealed the rare genetic disorder that cut his arms and legs. This is the diagnosis of the oldest DNA of a genetic disease in an anatomical modern human being.
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