Griscelli syndrome type 2

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

“…The proteins produced from these genes are found in pigment‐producing cells called melanocytes, and their defects impair the regular transport of melanosomes within melanocytes 2,4 . Patients with Griscelli syndrome type 2 (GS2, OMIM #607624) with RAB27A deficiency, have abnormal immune system as well as skin and hair hypopigmentation 5,7,8 . RAB27A is located on 15q21.3 and encodes, RAB27A a member of Rab GTPase family 9,10 .…”

“…2,4 Patients with Griscelli syndrome type 2 (GS2, OMIM #607624) with RAB27A deficiency, have abnormal immune system as well as skin and hair hypopigmentation. 5,7,8 RAB27A is located on 15q21.3 and encodes, RAB27A a member of Rab GTPase family. 9,10 GS2 is characterized by hypopigmentation, frequent pyogenic infection, enlargement of the liver and spleen, neutropenia and thrombocytopenia.…”