Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Kornak, Uwe × Reynders, Ellen Dimopoulou, Aikaterini van Reeuwijk, Jeroen Fischer, Bjoern Rajab, Anna Budde, Birgit Nürnberg, Peter Foulquier, Francois Lefeber, Dirk Urban, Zsolt Gruenewald, Stephanie Annaert, Wim Brunner, Han G van Bokhoven, Hans Wevers, Ron Morava, Eva Matthijs, Gert Van Maldergem, Lionel Mundlos, Stefan #
Nature Publishing Group
Nature genetics vol:40 issue:1 pages:32-4
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function.