Earliest Genetic Diagnosis Prehistoric DNA Romito

Ancient DNA Reveals Rare Genetic Growth Disorder in 12,000-Year-Old Mother and Daughter

Researcher Identify Rare Inherited Growth Disorder in a Prehistoric Mother and Daughter

Researchers from the University of Vienna, working alongside Liège University Hospital Center, have identified genetic mutations associated with a rare inherited growth disorder in two prehistoric people dating back over 12,000 years. Through the analysis of ancient DNA alongside modern clinical genetic techniques, the team diagnosed the condition in a mother and daughter interred together in southern Italy. Their study, published in the New England Journal of Medicine, highlights the growing power of paleogenomics to reveal both ancient population histories and rare genetic conditions.

Related science and archaeology coverage:

Human evolution and ancient discoveries

Grotta del Romito burial revisited

The discovery follows a renewed investigation of a famous Upper Palaeolithic burial site uncovered in 1963 at Grotta del Romito. For decades, researchers have debated the meaning of the burial and the unusual skeletal traits observed, with lingering uncertainty surrounding the pair's relationship and the biological cause of their reduced height.

Environmental and prehistoric context:

Ancient environments and human adaptation

A Remarkable Double Burial Raises Long-Standing Questions

The Romito Burial Explained

The two individuals were buried together in a striking embrace. The younger figure, known as "Romito 2", an adolescent with markedly shortened limbs and long believed to be male, was found resting in the arms of "Romito 1", previously identified as an adult woman. Careful examination revealed no evidence of injury or violent death.

Romito 2 is estimated to have stood around 110 cm tall, a stature consistent with a rare skeletal condition known as acromesomelic dysplasia, although this diagnosis could not be confirmed from bone evidence alone. Romito 1 was also notably short for the era, measuring approximately 145 centimeters.

For decades, scholars have debated:

• The biological sex of both individuals
• Their familial relationship
• Whether a shared medical condition explained their reduced height

Related biological variation insights:

Growth patterns in human and animals

Ancient DNA Unlocks Family relationship and Genetic Cause

To resolve these questions, researchers extracted ancient DNA from the petrous portion of the temporal bone in both individuals, an area known for exceptional genetic preservation. The analysis confirmed a first-degree biological relationship.

The team then examined genes linked to skeletal development, comparing the detected variants with modern clinical databases. This interdisciplinary investigation brought together:

• Paleogenomics
• Clinical genetics
• Physical anthropology

The research involved experts from the University of Vienna alongside collaborators in Italy, Portugal and Belgium.

Scientific methods and health genetics:

Genetics and inherited conditions

Earliest Genetic Diagnosis Ever Identified in Humans

The genetic analysis revealed that both individuals were female and closely related at the first-degree level, most likely a mother and her daughter.

In the younger individual, Romito 2, researchers identified a homozygous mutation in the NPR2 gene, a gene known to play a crucial role in skeletal development.

This findings confirmed a diagnosis of acromesomelic dysplasia, Maroteaux type — a very rare inherited condition marked by:

• Extreme short stature
• Pronounced limb shortening

Genetic evidence from Romito 1 showed that she carried a single altered copy of the same gene, a variant typically associated with a milder reduction in height.

Rare Diseases Have Roots in Human History

Ron Pinhasi of the University of Vienna, who co-led the research, says the use of ancient DNA is transforming how scientists interpret the past.

"By analyzing genetic material from prehistoric individuals, we can now pinpoint specific mutations," he explains. "This allows us to trace how far back rare genetic conditions extend and may even reveal variants that have never been documented before."

Daniel Fernandes of the University of Coimbra, the study's lead author, adds that confirming both individuals as female and closely related reframes the burial as a rare familial genetic case.

"The milder short stature of the older woman is consistent with a heterozygous mutation," he says, "demonstrating how the same gene could affect members of a prehistoric family in different ways."

Medical history and rare conditions:

Understanding rare diseases

Clinical Insights From Prehistoric Genetics

From a clinical perspective, the findings underline the long history of rare diseases. Adrian Daly of Li ège University Hospital Center, a co-leader of the study, notes:

"Rare genetic disorders are not a modern development. They have existed throughout human history and understanding their past can help us recognize and interpret these conditions today."

Evidence of Compassion and Long-Term Social Care

Despite profound physical limitations, Romito 2 lived into adolescence or possible adulthood, pointing to long-term care within her community.

Alfredo Coppa of Sapienza University of Rome, a co-leader of the study, says her survival would almost certainly have depended on sustained support.

"We believe she was cared for by her group over many years, receiving assistance with food and movement in what would have been a demanding environment," he explains.

Source

Social behaviour and care in early societies:

Cooperative behaviour in animals