Details

Autor(en) / Beteiligte

• 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

Titel

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Ist Teil von

• The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 . . .