Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Journal of Investigative Dermatology

Volumn 136, Issue 4, 2016, Pages 770-778

  Thomas, Anna C ^a   Zeng, Zhiqiang ^b   Rivière, Jean Baptiste ^c   O'Shaughnessy, Ryan ^a   Al Olabi, Lara ^a   St Onge, Judith ^c   Atherton, David J ^d   Aubert, Hélène ^e   Bagazgoitia, Lorea ^f   Barbarot, Sébastien ^e   Bourrat, Emmanuelle ^g,h   Chiaverini, Christine ⁱ   Chong, W Kling ^d   Duffourd, Yannis ^c   Glover, Mary ^d   Groesser, Leopold ^j   Hadj Rabia, Smail ^k   Hamm, Henning ^l   Happle, Rudolf ^m   Mushtaq, Imran ^d   Lacour, Jean Philippe ⁱ   Waelchli, Regula ^d   Wobser, Marion ^l   Vabres, Pierre ^c,n   Patton, E Elizabeth ^b   Kinsler, Veronica A ^a,d   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITÉ DE BOURGOGNE   (France)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f HOSPITAL RAMÓN Y CAJAL   (Spain)

^g SAINT LOUIS HOSPITAL   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ UNIVERSITY HOSPITAL OF NICE   (France)

^j UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^m UNIVERSITY OF FREIBURG   (Germany)

ⁿ DIJON UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; GNA11 PROTEIN, HUMAN; GNAQ PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT;

ADULT; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; EXTENSIVE DERMAL MELANOCYTOSIS; GENE; GENE MUTATION; GENETIC ASSOCIATION; GNA11 GENE; GNAQ GENE; HEK293 CELL LINE; HUMAN; HUMAN CELL; IN VITRO GENE TRANSFER; IN VITRO STUDY; MELANOCYTE; MELANOCYTOSIS; MISSENSE MUTATION; MOSAICISM; NONHUMAN; PHAKOMATOSIS; PHAKOMATOSIS PIGMENTOVASCULARIS; PHENOTYPE; PIGMENT DISORDER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN BIOPSY; ZEBRA FISH; ANIMAL; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; MOLECULAR GENETICS; MONGOLIAN SPOT; MUTATION; NUCLEOTIDE SEQUENCE; PHOSPHORYLATION; SIGNAL TRANSDUCTION; SKIN DISEASE; TRANSGENIC ANIMAL;

ALLELES; ANIMALS; ANIMALS, GENETICALLY MODIFIED; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GTP-BINDING PROTEIN ALPHA SUBUNITS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GQ-G11; HEK293 CELLS; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MONGOLIAN SPOT; MUTATION; MUTATION, MISSENSE; NEUROCUTANEOUS SYNDROMES; PHENOTYPE; PHOSPHORYLATION; SIGNAL TRANSDUCTION; SKIN DISEASES; ZEBRAFISH;

EID: 84978144297     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2015.11.027     Document Type: Article

References (34)

1. Boente Mdel, C., Obeid, R., Asial, R.A., Bibas-Bonet, H., Coronel, A.M., Happle, R., Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: “phacomatosis achromico-melano-marmorata”. Eur J Dermatol 18 (2008), 394–396.
2. Chhajed, M., Pandit, S., Dhawan, N., Jain, A., Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis. J Pediatr Neurosci 5 (2010), 138–140.
3. Cordova, A., The Mongolian spot: a study of ethnic differences and a literature review. Clin Pediatr (Phila) 20 (1981), 714–719.
4. Danarti, R., Happle, R., Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example. Eur J Dermatol, 13, 2003, 612.
5. Exome Aggregation Consortium. http://exac.broadinstitute.org. 2015 (accessed June 2015).
6. Groesser, L., Herschberger, E., Sagrera, A., Shwayder, T., Flux, K., Ehmann, L., et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 133 (2013), 1998–2003.
7. Gupta, D., Thappa, D.M., Mongolian spots—a prospective study. Pediatr Dermatol 30 (2013), 683–688.
8. Hall, B.D., Cadle, R.G., Morrill-Cornelius, S.M., Bay, C.A., Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. Am J Med Genet A 143A (2007), 3047–3053.
9. Hanson, M., Lupski, J.R., Hicks, J., Metry, D., Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol 139 (2003), 916–920.
10. Happle, R., Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16 (1987), 899–906.
11. Happle R. Mosaicism in human skin. Berlin Heidelberg: Springer-Verlag; 2013.
12. Hasegawa, Y., Yasuhara, M., A variant of phakomatosis pigmentovascularis. Skin Res 21 (1979), 178–186.
13. Henry, C.R., Hodapp, E., Hess, D.J., Blieden, L.S., Berrocal, A.M., Fluorescein angiography findings in phacomatosis pigmentovascularis. Ophthalmic Surg Lasers Imaging Retina 44 (2013), 201–203.
14. Igawa, H.H., Ohura, T., Sugihara, T., Ishikawa, T., Kumakiri, M., Cleft lip mongolian spot: mongolian spot associated with cleft lip. J Am Acad Dermatol 30 (1994), 566–569.
15. Jeon, S.Y., Ha, S.M., Ko, D.Y., Hong, J.W., Song, K.H., Kim, K.H., Phakomatosis pigmentovascularis Ib with left-sided hemihypertrophy, interdigital gaps and scoliosis: a unique case of phakomatosis pigmentovascularis. J Dermatol 40 (2013), 78–79.
16. Kinsler, V.A., Thomas, A.C., Ishida, M., Bulstrode, N.W., Loughlin, S., Hing, S., et al. Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol 133 (2013), 2229–2236.
17. Krema, H., Simpson, R., McGowan, H., Choroidal melanoma in phacomatosis pigmentovascularis cesioflammea. Can J Ophthalmol 48 (2013), e41–e42.
18. Kwan, K.M., Fujimoto, E., Grabher, C., Mangum, B.D., Hardy, M.E., Campbell, D.S., et al. The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs. Dev Dyn 236 (2007), 3088–3099.
19. Li, D., Opas, E.E., Tuluc, F., Metzger, D.L., Hou, C., Hakonarson, H., et al. Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. J Clin Endocrinol Metab 99 (2014), E1774–E1783.
20. Nesbit, M.A., Hannan, F.M., Howles, S.A., Babinsky, V.N., Head, R.A., Cranston, T., et al. Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N Engl J Med 368 (2013), 2476–2486.
21. Ota, M., Kawamura, T., Ito, N., Phakomatosis pigmentovascularis. Jpn J Dermatol 52 (1947), 1–31.
22. Riviere, J.B., Mirzaa, G.M., O'Roak, B.J., Beddaoui, M., Alcantara, D., Conway, R.L., et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44 (2012), 934–940.
23. Shields, C.L., Kaliki, S., Livesey, M., Walker, B., Garoon, R., Bucci, M., et al. Association of ocular and oculodermal melanocytosis with the rate of uveal melanoma metastasis: analysis of 7872 consecutive eyes. JAMA Ophthalmol 131 (2013), 993–1003.
24. Shields, C.L., Kligman, B.E., Suriano, M., Viloria, V., Iturralde, J.C., Shields, M.V., et al. Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma. Arch Ophthalmol 129 (2011), 746–750.
25. Shirley, M.D., Tang, H., Gallione, C.J., Baugher, J.D., Frelin, L.P., Cohen, B., et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368 (2013), 1971–1979.
26. Teekhasaenee, C., Ritch, R., Rutnin, U., Leelawongs, N., Ocular findings in oculodermal melanocytosis. Arch Ophthalmol 108 (1990), 1114–1120.
27. Teekhasaenee, C., Ritch, R., Glaucoma in phakomatosis pigmentovascularis. Ophthalmology 104 (1997), 150–157.
28. Tran, H.V., Zografos, L., Primary choroidal melanoma in phakomatosis pigmentovascularis IIa. Ophthalmology 112 (2005), 1232–1235.
29. Tsuruta, D., Fukai, K., Seto, M., Fujitani, K., Shindo, K., Hamada, T., et al. Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease. Pediatr Dermatol 16 (1999), 35–38.
30. Van Raamsdonk, C.D., Bezrookove, V., Green, G., Bauer, J., Gaugler, L., O'Brien, J.M., et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457 (2009), 599–602.
31. Van Raamsdonk, C.D., Fitch, K.R., Fuchs, H., de Angelis, M.H., Barsh, G.S., Effects of G-protein mutations on skin color. Nat Genet 36 (2004), 961–968.
32. Van Raamsdonk, C.D., Griewank, K.G., Crosby, M.B., Garrido, M.C., Vemula, S., Wiesner, T., et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 363 (2010), 2191–2199.
33. Vidaurri-de la Cruz, H., Tamayo-Sanchez, L., Duran-Mckinster, C., Orozco-Covarrubias, M.L., Ruiz-Maldonado, R., Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients. J Dermatol 30 (2003), 381–388.
34. Weinstein, L.S., Shenker, A., Gejman, P.V., Merino, M.J., Friedman, E., Spiegel, A.M., Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325 (1991), 1688–1695.