Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

摘要

Griscelli syndrome type 2 (GS2;OMIM#607624) is a rare autosomal recessive disorder characterized by hypomelanosis with immunologic abnormalities and haemophagocytic lymphohistocytosis.[1] Neurological manifestations were reported in 67% of GS2 patients.[2]It is caused by mutations in the RAB27A gene.[3] The RAB27A gene encodes Rab27a,a member of the small GTPase superfamily,involved in vesicular fusion and trafficking.[3] Mutations in the MYO5A,RAB27A,or MLPH genes cause GS 1,GS2 or GS3,respectively.It has been demonstrated that the tripartite protein complex (Rab27a/melanophilin/myosin Va) in melanocytes is needed for capturing mature melanosomes for transferring to keratinocytes.