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Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot
Setareh Mamishi1, Mohammad Hossein Modarressi, Babak Pourakbari
1Infectious Disease Research Center, Children's Medical Center, 62 Gharib St, 14194 Tehran, Iran.
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.
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