Wrinkly skin syndrome
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In many cases the underlying genetic cause of wrinkly skin syndrome is not known. Some cases are caused by mutations in the ATP6VOA2 gene. These gene mutations result in an abnormality in glycosylation. Glycosylation is a chemical process that occurs in your body's cells that involve attaching sugar molecules to proteins. Mutations in ATP6VOA2 can also cause autosomal recessive cutis laxa syndrome type 2 (ARCL type 2). Some consider wrinkly skin syndrome to be a mild variant of ARCL type 2.
Last updated: 10/12/2011
- Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110; http://www.nature.com.ezproxy.nihlibrary.nih.gov/ejhg/journal/v17/n9/full/ejhg200922a.html. Accessed 10/12/2011.