Syndromic albinism: A review of genetics and phenotypes

There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. HPS is related to 7 genes in humans. GS is related to 3 genes: MYOVA, Rab-27A, and melanophilin (Mlph). CHS is related to one gene: LYST. The genetic defects in ES and CMBS are yet to be defined. Syndromic forms of albinism are associated with defects in the packaging of melanin and other cellular proteins. As such they are distinct from oculocutaneous albinism, which is associated with defects in the production of melanin (e.g., TRP1, P gene, and tyrosinase).