De Barsy syndrome

De Barsy Syndrome
Classification and external resources
ICD-10	none
ICD-9	none
DiseasesDB	33717
MeSH	C535990

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

1. ^ ^{a b} "De Barsy Syndrome". Cigna. http://www.cigna.com/healthinfo/nord979.html. Retrieved 2011-8-14. 
2. ^ ^{a b} 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 2986595. PMID 19401719. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2986595. 
3. ^ 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. 
4. ^ ^{a b} 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 2987315. PMID 20010974. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2987315. 
5. ^ 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. 

External Links

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