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Review
. 2004 Nov 15;131C(1):75-81.
doi: 10.1002/ajmg.c.30036.

Genetics of pigmentary disorders

Yasushi Tomita  1 , Tamio Suzuki
Affiliations
Free article
Review

Genetics of pigmentary disorders

Yasushi Tomita et al. Am J Med Genet C Semin Med Genet. .
Free article

Abstract

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. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1-4 (OCA1-4). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1-3 (GS1-3). These disorders are presented and their gene mutations and pathogenesis are discussed.

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