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Disease relevance of Piebaldism


High impact information on Piebaldism

  • Although the molecular basis of piebaldism has been unclear, a phenotypically similar "dominant spotting" of mice is caused by mutations in the murine c-kit protooncogene [6].
  • Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism [7].
  • Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism [8].
  • Mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome [9].
  • Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism [10].

Chemical compound and disease context of Piebaldism


Biological context of Piebaldism


Anatomical context of Piebaldism

  • The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria [16].

Gene context of Piebaldism

  • Heterozygous mutations of PAX3, MITF, or c-kit genes induce Waardenburg syndrome (WS) 1/3, WS 2 or Piebaldism, respectively [17].
  • Deletion of the KIT and PDGFRA genes in a patient with piebaldism [13].
  • Despite showing no pigmentary abnormalities, the proband was found to harbor the same KIT mutation as her relatives affected by piebaldism, as well as two mutations in the SLC26A4 gene [18].
  • In contrast, expression of neither constitutively active Ret nor activated ras in enteric neural progenitors alters the severity of aganglionosis or piebaldism in ls/ls mice [19].
  • The 26 patients treated had piebaldism (three), vitiligo vulgaris (17), segmental vitiligo (three), halo naevi (one), naevus depigmentosus (one) and chemical leucoderma (one) [20].


  1. RTK mutations and human syndromeswhen good receptors turn bad. Robertson, S.C., Tynan, J.A., Donoghue, D.J. Trends Genet. (2000) [Pubmed]
  2. SLUG in cancer development. Pérez-Mancera, P.A., González-Herrero, I., Pérez-Caro, M., Gutiérrez-Cianca, N., Flores, T., Gutiérrez-Adán, A., Pintado, B., Sánchez-Martín, M., Sánchez-García, I. Oncogene (2005) [Pubmed]
  3. Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. Jimbow, K., Fitzpatrick, T.B., Szabo, G., Hori, Y. J. Invest. Dermatol. (1975) [Pubmed]
  4. White mutants in mice shedding light on humans. Halaban, R., Moellmann, G. J. Invest. Dermatol. (1993) [Pubmed]
  5. A mouse model for vitiligo. Lerner, A.B., Shiohara, T., Boissy, R.E., Jacobson, K.A., Lamoreux, M.L., Moellmann, G.E. J. Invest. Dermatol. (1986) [Pubmed]
  6. Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. Fleischman, R.A. J. Clin. Invest. (1992) [Pubmed]
  7. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Spritz, R.A., Giebel, L.B., Holmes, S.A. Am. J. Hum. Genet. (1992) [Pubmed]
  8. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Giebel, L.B., Spritz, R.A. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  9. Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Menasche, G., Feldmann, J., Houdusse, A., Desaymard, C., Fischer, A., Goud, B., de Saint Basile, G. Blood (2003) [Pubmed]
  10. Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. Murakami, T., Hosomi, N., Oiso, N., Giovannucci-Uzielli, M.L., Aquaron, R., Mizoguchi, M., Kato, A., Ishii, M., Bitner-Glindzicz, M., Barnicoat, A., Wilson, L., Tsukamoto, K., Ueda, H., Mancini, A.J., Suzuki, T., Riley, J., Miertus, J., Camargo, M., Santoro-Zea, A., Atkin, J., Fukai, K. J. Invest. Dermatol. (2005) [Pubmed]
  11. Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Spritz, R.A., Holmes, S.A., Ramesar, R., Greenberg, J., Curtis, D., Beighton, P. Am. J. Hum. Genet. (1992) [Pubmed]
  12. Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism. Fleischman, R.A., Gallardo, T., Mi, X. J. Invest. Dermatol. (1996) [Pubmed]
  13. Deletion of the KIT and PDGFRA genes in a patient with piebaldism. Spritz, R.A., Droetto, S., Fukushima, Y. Am. J. Med. Genet. (1992) [Pubmed]
  14. The molecular genetics of albinism and piebaldism. Tomita, Y. Archives of dermatology. (1994) [Pubmed]
  15. Ocular findings in the Hermansky-Pudlak syndrome. Izquierdo, N.J., Townsend, W., Hussels, I.E. Transactions of the American Ophthalmological Society. (1995) [Pubmed]
  16. Genetics of pigmentary disorders. Tomita, Y., Suzuki, T. American journal of medical genetics. Part C, Seminars in medical genetics. (2004) [Pubmed]
  17. Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. Tomita, Y., Miyamura, Y., Kono, M., Nakamura, R., Matsunaga, J. Pigment Cell Res. (2000) [Pubmed]
  18. Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Shears, D., Conlon, H., Murakami, T., Fukai, K., Alles, R., Trembath, R., Bitner-Glindzicz, M. Clin. Genet. (2004) [Pubmed]
  19. Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice. Rice, J., Doggett, B., Sweetser, D.A., Yanagisawa, H., Yanagisawa, M., Kapur, R.P. Dev. Dyn. (2000) [Pubmed]
  20. Leucoderma treated by transplantation of a basal cell layer enriched suspension. Olsson, M.J., Juhlin, L. Br. J. Dermatol. (1998) [Pubmed]
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