AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with proteus syndrome

Journal of Investigative Dermatology

Volumn 134, Issue 2, 2014, Pages 543-546

  Lindhurst, Marjorie J ^a   Wang, Ji An ^b   Bloomhardt, Hadley M ^a   Witkowski, Alison M ^a   Singh, Larry N ^a   Bick, David P ^c   Gambello, Michael J ^d   Powell, Cynthia M ^e   Lee, Chyi Chia Richard ^f   Darling, Thomas N ^b   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Uniformed Services University of the Health Sciences and the Walter Reed National Military Medical Center   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^f NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROTEIN KINASE B;

ACANTHOSIS; ALLELE; CELL MUTANT; CONNECTIVE TISSUE; EPIDERMIS; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; HYPERKERATOSIS; KERATINOCYTE; LETTER; MULTIPLE CANCER; ONCOGENE RAS; PAPILLOMATOSIS; PRIORITY JOURNAL; PUNCH BIOPSY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKIN BIOPSY; SKIN FIBROBLAST; SOMATIC MUTATION;

DERMIS; EPIDERMIS; HUMANS; NEVUS; POINT MUTATION; PROTEUS SYNDROME; PROTO-ONCOGENE PROTEINS C-AKT; SKIN NEOPLASMS;

EID: 84892803361     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.312     Document Type: Letter

References (15)

1. Aasen T, Belmonte JCI (2010) Isolation and cultivation of human keratinocytes from skin or plucked hair for the generation of induced pluripotent stem cells. Nat Protoc 5:371-82
2. Beachkofsky TM, Sapp JC, Biesecker LG et al. (2010) Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome. J Am Acad Dermatol 63: 799-804
3. Biesecker L (2006) The challenges of Proteus syndrome: Diagnosis and management. Eur J Hum Genet 14:1151-7
4. Biesecker LG (2001) The multifaceted challenges of Proteus syndrome. JAMA 285:2240-3
5. Groesser L, Herschberger E, Ruetten A et al. (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 44:783-7
6. Hafner C, Lopez-Knowles E, Luis NM et al. (2007) Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci USA 104:13450-4
7. Hafner C, Toll A, Gantner S et al. (2012) Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet 49: 249-53
8. Hafner C, van Oers JMM, Vogt T et al. (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 116:2201-7
9. Happle R (2010) The group of epidermal nevus syndromes. J Am Acad Dermatol 63:1-22
10. Lindhurst MJ, Sapp JC, Teer JK et al. (2011) A Mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365:611-9
11. McCuaig CC, Vera C, Kokta V et al. (2012) Connective tissue nevi in children: Institutional experience and review. J Am Acad Dermatol 67:890-7
12. Nguyen D, Turner JT, Olsen C et al. (2004) Cutaneous manifestations of Proteus syndrome. Correlations with general clinical severity. Arch Dermatol 140:947-53
13. Turner JT, Cohen MM Jr., Biesecker LG (2004) Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet 130A: 111-22
14. Twede JV, Turner JT, Biesecker LG et al. (2005) Evolution of skin lesions in Proteus syndrome. J Am Acad Dermatol 52:834-8
15. Wieland I, Tinschert S, Zenker M (2013) High-level somatic mosaicism of AKT1 c.49G4A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome. Am J Med Genet A 161:889-91