Divided in three sub-types: GS1, GS2 and GS3, according with the mutated disease-causing-gene. All forms of GS present hypopigmentation of the hair and skin, immunological defects and in the case of GS2 also immune dysfunction.

The mutation of these genes affects the complex that allows melanosomes to be transferred from melanocytes to keratinocytes, where they protect nuclear DNA from ultraviolet radiation.

Rare Disease