High‐level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non‐invasive molecular diagnosis in patients with Proteus syndrome

Abstract

American Journal of Medical Genetics Part AVolume 161, Issue 4 p. 889-891 Research Letter High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome†‡ Ilse Wieland, Ilse Wieland Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, GermanySearch for more papers by this authorSigrid Tinschert, Sigrid Tinschert Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany Division of Human Genetics, Medical University Innsbruck, Innsbruck, AustriaSearch for more papers by this authorProf. Dr. Martin Zenker, Corresponding Author Prof. Dr. Martin Zenker [email protected] Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, GermanyInstitute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Leipziger Str. 44, Magdeburg 39120, Germany.Search for more papers by this author Ilse Wieland, Ilse Wieland Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, GermanySearch for more papers by this authorSigrid Tinschert, Sigrid Tinschert Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany Division of Human Genetics, Medical University Innsbruck, Innsbruck, AustriaSearch for more papers by this authorProf. Dr. Martin Zenker, Corresponding Author Prof. Dr. Martin Zenker [email protected] Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, GermanyInstitute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Leipziger Str. 44, Magdeburg 39120, Germany.Search for more papers by this author First published: 22 February 2013 https://doi.org/10.1002/ajmg.a.35764Citations: 9 † How to cite this article: Wieland I, Tinschert S, Zenker M. 2013. High-level somatic mosaicism of AKT1 c.49G>A, mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome. Am J Med Genet Part A 161A:889–891. ‡ Conflict of interest: nothing to declare. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Citing Literature Volume161, Issue4April 2013Pages 889-891 RelatedInformation