Abstract
Darier disease and Acrokeratosis Verruciformis of Hopf (AKV) are rare disorders of keratinization with autosomal dominant inheritance and very distinct clinical pictures. Both have been shown to be caused by mutations in ATP2A2 (ATPase, Ca++ transporting, cardiac muscle, slow-twitch) a gene encoding one of the SERCA (sarcoplasmic/endoplasmic reticulum calcium ATPase2) intracellular pumps with a crucial role in cell-to-cell adhesion in both skin and heart. While hundreds of different missense and nonsense mutations cause Darier disease, only one missense mutation, p.(Pro602Leu), has been identified in families with AKV. We report a family with AKV due to the p.(Pro602Leu) mutation and discuss implications for this recurrent mutation on knowledge of ATP2A2 structure and function.
References
Sep 1, 1980·Ophthalmology·H J BlackmanG L Peck
Mar 18, 1999·Nature Genetics·A SakuntabhaiA Hovnanian
Aug 11, 1999·Human Molecular Genetics·N J JacobsenM J Owen
Feb 13, 2001·Human Molecular Genetics·N TisoA Rampazzo
Oct 9, 2002·The British Journal of Dermatology·A T SheridanS Burge
Jan 25, 2003·The Journal of Investigative Dermatology·Jittima DhitavatAlain Hovnanian
Apr 3, 2003·The Journal of Biological Chemistry·Wooin AhnShmuel Muallem
May 24, 2006·Clinical and Experimental Dermatology·P-G WangX-J Zhang
Jun 4, 2010·The British Journal of Dermatology·D R BerkA T Lane
Jul 21, 2012·The American Journal of Dermatopathology·Reuven BergmanEmily Avitan-Hersh
Jan 30, 2013·The Journal of Dermatology·Elaine K GreenNicholoas Craddock
Jan 7, 2014·The Journal of Investigative Dermatology·Magali SavignacAlain Hovnanian
Jul 2, 2014·Journal of the European Academy of Dermatology and Venereology : JEADV·R G L NellenM A M van Steensel
Jun 13, 2015·BioMed Research International·Vikram PrasadGary E Shull
Dec 31, 2016·Human Mutation·Ruud G L NellenMichel van Geel