A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

doi:10.1056/NEJMoa1104017

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Article

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

The New England journal of medicine - 18 Aug 2011

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

Abstract excerpt

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 biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those...

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PMID: 21793738
DOI: 10.1056/NEJMoa1104017
PMCID: PMC3170413

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AKT1

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