Griscelli patient with a novel RAB27A mutation. (A) The unique silver hair color characteristic of Griscelli syndrome. (B) Dense melanin spots are visible in the colorless hair shaft compared with normal hair. (C) Stop mutation detected in exon 5 of RAB27A. The full ORF was amplified from cDNA. The lower band is a splice variant completely lacking exon 5, resulting in a frameshift downstream. (D) Sequencing revealed a cytidine to thymidine point mutation, changing glutamine 118 into a stop codon. (E) Genomic analysis for the RAB27A mutation. SSP-PCR revealed homozygosity of the mutation of the patient and heterozygosity of the parents. PCR was performed on genomic DNA with primers differing in the single base mutation as described in “Patients, materials, and methods.”