A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

The Proteus syndrome affects some tissues and not others and is thought to be caused by a somatic mutation. Investigators found that the mutation is caused by activation of AKT1, an enzyme that mediates glucose metabolism, cell proliferation, and apoptosis. The Proteus syndrome is characterized by p...

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Published in:	The New England journal of medicine Vol. 365; no. 7; pp. 611 - 619
Main Authors:	Lindhurst, Marjorie J, Sapp, Julie C, Teer, Jamie K, Johnston, Jennifer J, Finn, Erin M, Peters, Kathryn, Turner, Joyce, Cannons, Jennifer L, Bick, David, Blakemore, Laurel, Blumhorst, Catherine, Brockmann, Knut, Calder, Peter, Cherman, Natasha, Deardorff, Matthew A, Everman, David B, Golas, Gretchen, Greenstein, Robert M, Kato, B. Maya, Keppler-Noreuil, Kim M, Kuznetsov, Sergei A, Miyamoto, Richard T, Newman, Kurt, Ng, David, O'Brien, Kevin, Rothenberg, Steven, Schwartzentruber, Douglas J, Singhal, Virender, Tirabosco, Roberto, Upton, Joseph, Wientroub, Shlomo, Zackai, Elaine H, Hoag, Kimberly, Whitewood-Neal, Tracey, Robey, Pamela G, Schwartzberg, Pamela L, Darling, Thomas N, Tosi, Laura L, Mullikin, James C, Biesecker, Leslie G
Format:	Journal Article
Language:	English
Published:	Waltham, MA Massachusetts Medical Society 18-08-2011
Subjects:	1-Phosphatidylinositol 3-kinase AKT protein AKT1 protein Apoptosis Biological and medical sciences Biopsy Cell culture Cell proliferation Child Complex syndromes Deoxyribonucleic acid DNA DNA Mutational Analysis DNA sequencing Enzymes Exons - genetics Families & family life General aspects Genetic counseling Genomes Genotype Humans Male Medical genetics Medical sciences Mosaicism Mutation Nucleotide sequence Patients Phosphorylation Proteus Syndrome - genetics Proto-Oncogene Proteins c-akt - genetics Proto-Oncogene Proteins c-akt - metabolism Skin Western blotting Medicine Skin disease Association Proteus syndrome Genetics Mosaicism Mutation Complex syndrome
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Summary:	The Proteus syndrome affects some tissues and not others and is thought to be caused by a somatic mutation. Investigators found that the mutation is caused by activation of AKT1, an enzyme that mediates glucose metabolism, cell proliferation, and apoptosis. The Proteus syndrome is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to the development of tumors 1 , 2 (Figure 1). It is thought that Joseph Merrick, an Englishman who lived in the late 19th century and became the subject of the play and film The Elephant Man, had the Proteus syndrome. This uncommon syndrome (with an incidence of <1 case per 1 million population) has not been reported to recur in a family but has been reported in discordant monozygotic twins. 3 These observations support the hypothesis that the Proteus syndrome is caused . . .
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-4793 1533-4406 1533-4406
DOI:	10.1056/NEJMoa1104017