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

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...

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Published in	Nature genetics Vol. 40; no. 1; pp. 32 - 34
Main Authors	Rajab, Anna, van Bokhoven, Hans, Foulquier, Francois, Gruenewald, Stephanie, Lefeber, Dirk, Van Maldergem, Lionel, Morava, Eva, Reynders, Ellen, Urban, Zsolt, Wevers, Ron, Mundlos, Stefan, Annaert, Wim, Nürnberg, Peter, Kornak, Uwe, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Budde, Birgit, Brunner, Han G, Matthijs, Gert
Format	Journal Article
Language	English
Published	New York Nature Publishing Group US 01.01.2008 Nature Publishing Group
Subjects	Agriculture Animal Genetics and Genomics Biochemistry Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cutis Laxa - genetics Cutis Laxa - metabolism Female Gene Function Genetics Glycosylation Golgi Apparatus Human Genetics Humans Infant Male Mutation Proteins Proton-Translocating ATPases - genetics Skin diseases
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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.
AbstractList	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. 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.
Author	Nürnberg, Peter van Reeuwijk, Jeroen Gruenewald, Stephanie Kornak, Uwe Rajab, Anna Annaert, Wim Dimopoulou, Aikaterini Wevers, Ron Morava, Eva Urban, Zsolt Lefeber, Dirk Brunner, Han G Fischer, Bjoern van Bokhoven, Hans Matthijs, Gert Reynders, Ellen Foulquier, Francois Budde, Birgit Mundlos, Stefan Van Maldergem, Lionel
Author_xml	– givenname: Anna surname: Rajab fullname: Rajab, Anna organization: Genetic Unit, Directorate General of Health Affairs, Ministry of Health – givenname: Hans surname: van Bokhoven fullname: van Bokhoven, Hans organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre – givenname: Francois surname: Foulquier fullname: Foulquier, Francois organization: Laboratory for Molecular Diagnostics, Center for Human Genetics, University of Leuven – givenname: Stephanie surname: Gruenewald fullname: Gruenewald, Stephanie organization: Great Ormond Street Hospital for Children Trust NHS – givenname: Dirk surname: Lefeber fullname: Lefeber, Dirk organization: Laboratory of Pediatrics and Neurology, University Medical Centre Nijmegen – givenname: Lionel surname: Van Maldergem fullname: Van Maldergem, Lionel organization: Centre de Génétique Humaine, Centre Hospitalier Universitaire du Sart-Tilman, Université de Liège – givenname: Eva surname: Morava fullname: Morava, Eva organization: Department of Pediatrics, University Medical Centre Nijmegen – givenname: Ellen surname: Reynders fullname: Reynders, Ellen organization: Laboratory for Membrane Trafficking, Center for Human Genetics, University of Leuven and Department for Molecular and Developmental Genetics, Flanders Institute for Biotechnology (VIB) – givenname: Zsolt surname: Urban fullname: Urban, Zsolt organization: Department of Pediatrics and Department of Genetics, Washington University – givenname: Ron surname: Wevers fullname: Wevers, Ron organization: Laboratory of Pediatrics and Neurology, University Medical Centre Nijmegen – givenname: Stefan surname: Mundlos fullname: Mundlos, Stefan organization: Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics – givenname: Wim surname: Annaert fullname: Annaert, Wim organization: Laboratory for Membrane Trafficking, Center for Human Genetics, University of Leuven and Department for Molecular and Developmental Genetics, Flanders Institute for Biotechnology (VIB) – givenname: Peter surname: Nürnberg fullname: Nürnberg, Peter organization: Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne – givenname: Uwe surname: Kornak fullname: Kornak, Uwe organization: Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics – givenname: Aikaterini surname: Dimopoulou fullname: Dimopoulou, Aikaterini organization: Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics – givenname: Jeroen surname: van Reeuwijk fullname: van Reeuwijk, Jeroen organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre – givenname: Bjoern surname: Fischer fullname: Fischer, Bjoern organization: Institute for Medical Genetics, Charité Universitaetsmedizin Berlin and Max Planck Institute for Molecular Genetics – givenname: Birgit surname: Budde fullname: Budde, Birgit organization: Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne – givenname: Han G surname: Brunner fullname: Brunner, Han G organization: Department of Human Genetics, Radboud University Nijmegen Medical Centre – givenname: Gert surname: Matthijs fullname: Matthijs, Gert organization: Laboratory for Molecular Diagnostics, Center for Human Genetics, University of Leuven
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/18157129$$D View this record in MEDLINE/PubMed
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Copyright	Springer Nature America, Inc. 2008 Copyright Nature Publishing Group Jan 2008
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Snippet	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... 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...
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SubjectTerms	Agriculture Animal Genetics and Genomics Biochemistry Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cutis Laxa - genetics Cutis Laxa - metabolism Female Gene Function Genetics Glycosylation Golgi Apparatus Human Genetics Humans Infant Male Mutation Proteins Proton-Translocating ATPases - genetics Skin diseases
Title	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2
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