A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

J. Lindhurst, Marjorie; C. Sapp, Julie; K. Teer, Jamie; J. Johnston, Jennifer; Finn, Erin; F. Peters, Kathryn; Turner, Joyce; L. Cannons, Jennifer; Bick, David; C. Blakemore, Laurel; Blumhorst, Catherine; Brockmann, Knut; Calder, Peter; Cherman, Natasha; A. Deardorff, Matthew; B. Everman, David; Golas, Gretchen; M. Greenstein, Robert; Maya Kato, B.; M. Keppler‐Noreuil, Kim; A. Kuznetsov, Sergei; T. Miyamoto, Richard; D. Newman, Kurt; Ng, David; O’Brien, Kevin; Rothenberg, Steven; J. Schwartzentruber, Douglas; K. Singhal, Virender; Tirabosco, Roberto; Upton, Joseph; Wientroub, Shlomo; H. Zackai, Elaine; Hoag, Kimberly; Whitewood-Neal, Tracey; Gehron Robey, Pamela; L. Schwartzberg, Pamela; N. Darling, Thomas; L. Tosi, Laura; C. Mullikin, James; G. Biesecker, Leslie

doi:10.1056/nejmoa1104017

Public

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Published in New England Journal of Medicine • Jul 27, 2011

Authors:

Marjorie J. Lindhurst

Julie C. Sapp

Jamie K. Teer

Abstract

BACKGROUND: The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS: We performed exome sequencing of DNA from...

Subject

Proteus syndrome

Germline mutation

AKT1

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