Molecular analysis and clinical findings of Griscelli syndrome patients.


Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2 cases, deletion of 5 bases (514delCAAGC) in 2 cases, and 1 base deletion (148delA) in 2 cases were detected. This report has importance in phenotype-genotype correlation of different types of mutations including missense mutations and deletions within the RAB27A gene in GSII syndrome.

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@article{Durmaz2012MolecularAA, title={Molecular analysis and clinical findings of Griscelli syndrome patients.}, author={Asude Alpman Durmaz and Ferda Ozkinay and Huseyin Onay and Murat Tombuloğlu and Avni Atay and Orhan Gursel and Erdal Peker and Murat Mert Atmaca and Ferah Genel and Sibel Bozabali and Haluk M. Akin and Cihangir Ozkinay}, journal={Journal of pediatric hematology/oncology}, year={2012}, volume={34 7}, pages={541-4} }