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.
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Acknowledgment
We thank Prof. Genevieve de Saint Basile, Hôpital Necker Enfants Malades, Paris, France, for mutation analysis of patients P8 and P9, and also for critical reviewing of the manuscript. This study was supported by a grant from the University of Tehran (Medical Sciences) to N.P.
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Mamishi, S., Modarressi, M.H., Pourakbari, B. et al. Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot. J Clin Immunol 28, 384–389 (2008). https://doi.org/10.1007/s10875-008-9192-5
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DOI: https://doi.org/10.1007/s10875-008-9192-5