The Remains Of A Blue-Eyed Baby Boy Who Lived In Southern Italy About 17,000 Years Ago Were Unearthed, And Recent DNA Analysis Suggests He Likely Died Of Congenital Heart Disease

According to Higgins and Modi, the strontium isotope analysis determined that the mother stayed in the local area during the last stages of her pregnancy. Her limited movement may have been due to poor health, which had negative effects on her fetus.

The DNA analysis also revealed mutations in two of the baby’s genes—TNNT2 and MYBPC3. These genes are associated with the production of heart muscle proteins.

Mutations often lead to hypertrophic cardiomyopathy. It is mostly a genetic condition that causes the left ventricle walls to stiffen and thicken over time, preventing the heart from receiving or pumping enough blood with each heartbeat. It may have contributed to the child’s early death.

The baby was related to a group of ice-age hunter-gatherers who were descendants of the Villabruna cluster.

He likely belonged to a small ancestral group that inhabited Sicily and southern Italy. The group was small, so inbreeding sometimes occurred, as evidenced by the boy’s parents.

“The analysis of the nuclear genome suggests a high degree of relatedness among the parents, which were likely first cousins,” said Higgins and Modi.