tyrosinase positive albinism & Prader-Willi sydrome
Last reviewed 01/2018
There is an association between tyrosinase positive albinism, caused by mutations of the P gene, and the Prader-Willi/Angelman (PW/A) syndrome.
The deletion on chromosome 15 which causes the PW/A syndrome may also destroy the P gene (located at chromosome 15q11-q13). If a patient with PW/A syndrome is hemizygous for a mutant allele of the P gene there will be an associated tyrosinase positive albinism.