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Brief Communication

Nature Genetics 40, 32–34 (1 January 2008) | doi:10.1038/ng.2007.45

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Uwe Kornak , Ellen Reynders , Aikaterini Dimopoulou , Jeroen van Reeuwijk , Bjoern Fischer , Anna Rajab , Birgit Budde , Peter N|[uuml]|rnberg , Francois Foulquier , William B Dobyns , Dulce Quelhas , Laura Vilarinho , Elisa Leao-Teles , Marie Greally , Eva Seemanova , Martina Simandlova , Mustafa Salih , Arti Nanda , Lina Basel-Vanagaite , Hulya Kayserili , Memmune Yuksel-Apak , Marc Larregue , Jacqueline Vigneron , Sanda Giurgea , Uwe Kornak , Stefan Mundlos , Dirk Lefeber , Zsolt Urban , Stephanie Gruenewald , Wim Annaert , Han G Brunner , Hans van Bokhoven , Ron Wevers , Eva Morava , Gert Matthijs , Lionel Van Maldergem & Stefan Mundlos

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.