Author: Rossella Lorenzi for
Published On: 09/21/2016

A Renaissance painting in Mantua, Italy contains the portrait of a multisystem genetic disorder that was first described more than 80 years later, says new research into the work.

Published in Lancet Neurology, the study diagnosed a case of neurofibromatosis type 1 (NF1) in the portrait of a maidservant affected by dwarfism. Caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division, the disorder is associated with decreased production of the protein neurofibromin and is characterized by the growth of tumors on the nerves.

The woman diagnosed with the disease is portrayed alongside Ludovico Gonzaga, the ruler of the Italian city of Mantua from 1444 to his death in 1478, his family, courtiers and a pet dog.

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