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Genetic and Rare Diseases Information Center (GARD)

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Wrinkly skin syndrome

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What causes wrinkly skin syndrome?

In many cases the underlying genetic cause of wrinkly skin syndrome is not known. Some cases are caused by mutations in the ATP6VOA2 gene.[1] These gene mutations result in an abnormality in glycosylation.[1] 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).[1] Some consider wrinkly skin syndrome to be a mild variant of ARCL type 2.[1]
Last updated: 10/12/2011

  1. Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110; Accessed 10/12/2011.