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 Nürnberg, 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 KayseriliMemmune Yuksel-Apak, Marc Larregue, Jacqueline Vigneron, Sanda Giurgea, 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

Research output: Contribution to journalArticle

238 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)32-34
Number of pages3
JournalNature Genetics
Volume40
Issue number1
DOIs
StatePublished - Jan 1 2008

ASJC Scopus subject areas

  • Genetics

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    Kornak, U., Reynders, E., Dimopoulou, A., Van Reeuwijk, J., Fischer, B., Rajab, A., Budde, B., Nürnberg, P., Foulquier, F., Dobyns, W. B., Quelhas, D., Vilarinho, L., Leao-Teles, E., Greally, M., Seemanova, E., Simandlova, M., Salih, M., Nanda, A., Basel-Vanagaite, L., ... Mundlos, S. (2008). Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics, 40(1), 32-34. https://doi.org/10.1038/ng.2007.45