DNA From a 12,000-Year-Old Cave Embrace Points to a Mother and Daughter Sharing a Rare Dwarfism Gene

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Ancient DNA has now shown that the teen was a girl and that the adult buried beside her was most likely her mother.

The analysis, published in January as a letter in the New England Journal of Medicine, also confirmed why the girl was so small. She carried two altered copies of a gene called NPR2, which cause a rare inherited form of dwarfism known as acromesomelic dysplasia, Maroteaux type. The older woman carried one altered copy, which likely explains why she was short too, though far less so.

The double grave was discovered in 1963 in Grotta del Romito, a cave in Calabria. It dates to the Upper Paleolithic period, more than 12,000 years ago. The two people, known as Romito 1 and Romito 2, were laid to rest together, and their remains showed no signs of trauma.

Romito 2 stood about 110 centimeters tall, roughly 3 feet 7 inches. Earlier examinations of the bones had pointed to acromesomelic dysplasia, according to Sapienza University of Rome, but the diagnosis was never confirmed. The sex of both individuals, how they were related, and whether they shared a cause of short stature all remained open questions.

Romito 1, the adult, was about 145 centimeters tall, or about 4 feet 9 inches. That was short for people of her time, but not dramatically so.

The international team behind the new work was co-led by Ron Pinhasi of the University of Vienna and Adrian Daly of Liège University Hospital Centre in Belgium, with Alfredo Coppa of Sapienza among the leaders. Daniel Fernandes of the University of Coimbra in Portugal was the first author. The researchers extracted DNA from the petrous bone, a dense part of the skull near the inner ear that tends to preserve genetic material unusually well.

Romito 2 turned out to be homozygous for a harmful NPR2 variant, meaning she inherited an altered copy from each parent. Romito 1 was heterozygous, carrying one altered copy and one normal copy.

That difference matters medically. Acromesomelic dysplasia, Maroteaux type, is autosomal recessive, so a child needs two altered copies to develop the full condition. The NIH’s MedGen database describes it as causing severe dwarfism, with adult height below 120 centimeters, along with shortening of the forearms, lower legs, hands, and feet.

NPR2 carries instructions for a receptor that responds to C-type natriuretic peptide, a signaling molecule that helps the growth plates in children’s bones lengthen. When both copies of the gene are faulty, that growth signal weakens, and the limbs are hit hardest. People with a single altered copy can have milder reductions in height, and the researchers linked Romito 1’s below-average stature to that one-copy effect.

“Identifying both individuals as female and closely related turns this burial into a familial genetic case,” Fernandes said in a University of Vienna announcement.

The genetic data show the two were first-degree relatives, and a mother and daughter is the most likely pairing. Because the girl inherited two altered copies, her father would also have carried at least one copy of the variant.

The researchers describe the finding as the earliest genetic diagnosis of a disease in humans. It also shows that ancient DNA can now confirm diagnoses that skeletal measurements alone could only suggest. Daly has framed the result as evidence that rare genetic diseases are not a modern phenomenon, a message echoed by the European Reference Network on endocrine conditions, which highlighted the study in February.

Romito 2 survived into late adolescence despite a condition that would have shaped how she moved and worked. Her survival points to help from the people around her.

“We believe her survival would have required sustained support from her group, including help with food and mobility,” Coppa said in the university announcement. That conclusion is an interpretation of the evidence rather than a direct observation, but it fits a broader body of archaeological work suggesting that some prehistoric groups cared for members with disabilities.

The findings come from just two individuals, so they cannot reveal how common the variant was in Paleolithic Europe. No follow-up study has been reported since the January publication. Even so, the work offers a rare look at how a genetic condition still diagnosed in clinics today played out within one family more than 12,000 years ago.

What did the DNA reveal about the Romito Cave burial?

Both individuals were female and first-degree relatives, most likely a mother and daughter. The younger one had long been assumed to be male.

What condition did the younger individual have?

Acromesomelic dysplasia, Maroteaux type, a rare inherited form of dwarfism caused by two altered copies of the NPR2 gene.

She carried one altered NPR2 copy. Carriers can have milder short stature, which the researchers believe explains her height of about 145 centimeters.

How did researchers get DNA from bones this old?

They sampled the petrous bone near the inner ear, which often preserves ancient DNA better than other parts of the skeleton.

Does this show prehistoric people cared for relatives with disabilities?

The researchers believe the girl’s survival into adolescence required ongoing support from her group. That is an interpretation, not a direct record.