De Barsy syndrome

De Barsy syndrome

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.^[1] It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).^[2]

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]

Alternative names for De Barsy syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.^[1]

References

External links

• De Barsy Syndrome at the United States National Library of Medicine
• De Barsy Syndrome at the National Organization for Rare Disorders