1.
J Clin Immunol
; 28(4): 384-9, 2008 Jul.
Article
in English
| MEDLINE
| ID: mdl-18350256
ABSTRACT
INTRODUCTION: Griscelli syndrome type 2 is an autosomal recessive disorder characterized by pigmentary dilution and occurrence of acute phases of hemophagocytosis. The disease is caused by mutations in RAB27A gene, coding a small GTPase involved in terminal phases of cytotoxic granule/melanosome exocytosis. MATERIALS AND METHODS: We describe the result of mutation analysis among nine patients from seven non-related Persian families. We present four novel mutations including a deletion hot spot (514del 5). CONCLUSION: This hot spot is flanked by "direct repeats" of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.