It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide.[3] The genes that cause De Barsy syndrome have not been identified yet,[2] although several studies have narrowed down the symptoms' cause.[4] A study by Reversade et al. has shown that a mutation in PYCR1, the genetic sequence that codes for mitochondrial enzymes that break down proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome.[5] A study by Leao-Teles et al. has shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system.[4]