De Barsy syndrome
|De Barsy syndrome|
|Classification and external resources|
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. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).
It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide. The genes that cause De Barsy syndrome have not been identified yet, although several studies have narrowed down the symptoms' cause. 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. 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.
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.
- "De Barsy Syndrome". Cigna. Retrieved 2011-08-14.
- Morava, Éva; Guillard, Maïlys; Lefeber, Dirk J; Wevers, Ron A (2009). "Autosomal recessive cutis laxa syndrome revisited". European Journal of Human Genetics. 17 (9): 1099–110. doi:10.1038/ejhg.2009.22. PMC . PMID 19401719.
- Kivuva, Emma C.; Parker, Michael J.; Cohen, Marta C.; Wagner, Bart E.; Sobey, Glenda (2008). "De Barsy syndrome: A review of the phenotype". Clinical Dysmorphology. 17 (2): 99–107. doi:10.1097/MCD.0b013e3282f4a964. PMID 18388779.
- Leao-Teles, Elisa; Quelhas, Dulce; Vilarinho, Laura; Jaeken, Jaak (2009). "De Barsy syndrome and ATP6V0A2-CDG". European Journal of Human Genetics. 18 (5): 526. doi:10.1038/ejhg.2009.218. PMC . PMID 20010974.
- Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; et al. (2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921.
- De Barsy Syndrome at the United States National Library of Medicine
- De Barsy Syndrome at the National Organization for Rare Disorders
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