Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

ABSTRACT: Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of two different genes on chromosome 15q can cause the different subtypes of GS. Most patients with GS display the hemophagocytic syndrome and have mutations in RAB27A, which codes for a small GTPase. Two patients with neurological involvement have mutations in MYO5A, which codes for an actin-based molecular motor. The RAB27A and MYO5A gene products interact with each other and function in vesicle trafficking. We report the molecular basis of GS in a Muslim Arab kindred whose members have extremely variable neurological involvement, along with the hemophagocytic syndrome and immunologic abnormali

SUBMITTER: Anikster Y 

PROVIDER: S-EPMC379173 | biostudies-literature | 2002 Aug

REPOSITORIES: biostudies-literature