New technology combined with a new disease used to explain an old case of gigantism

What is it about?

This study shows how new technologies to study ancient DNA can be used to make a diagnosis of a rare novel genetic syndrome, X-linked acrogigantism in a case from >100 years ago.

Featured Image

Why is it important?

This is the tallest known human (259 cm) with a genetic diagnosis, namely, considerable evidence for a GPR101 gene duplication causing X-linked acrogigantism syndrome.