De Barsy syndrome
|De Barsy syndrome|
|Other names: Cutis laxa-corneal clouding-intellectual disability syndrome|
|De Barsy syndrome is inherited in an autosomal recessive manner.|
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. (2009) has shown that recessive mutations in PYCR1 or ALD18A1, the genetic sequences that codes for mitochondrial enzymes that synthesize L-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.
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- Morava E, Guillard M, Lefeber DJ, Wevers RA (September 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.
- Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G (April 2008). "De Barsy syndrome: a review of the phenotype". Clinical Dysmorphology. 17 (2): 99–107. doi:10.1097/MCD.0b013e3282f4a964. PMID 18388779. S2CID 42619228.
- Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J (May 2010). "De Barsy syndrome and ATP6V0A2-CDG". European Journal of Human Genetics. 18 (5): 526, author reply 526. doi:10.1038/ejhg.2009.218. PMC 2987315. PMID 20010974.
- Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.
- Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, et al. (September 2015). "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa". American Journal of Human Genetics. 97 (3): 483–92. doi:10.1016/j.ajhg.2015.08.001. PMC 4564990. PMID 26320891.