title: Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.
abstract: BACKGROUND
  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.
  
  
  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).
  
  
  CONCLUSIONS
  This hot spot is flanked by "direct repeats" of nucleotides, which are previously shown to be associated with areas of recurrent small deletions.
authors: Infectious Disease Research Center, Children's Medical Center, 62 Gharib St, 14194 Tehran, Iran.
authors: Setareh
authors: S
authors: Mamishi
authors: Mohammad Hossein
authors: MH
authors: Modarressi
authors: Babak
authors: B
authors: Pourakbari
authors: Banafshe
authors: B
authors: Tamizifar
authors: Fatemeh
authors: F
authors: Mahjoub
authors: Alireza
authors: A
authors: Fahimzad
authors: Soheila
authors: S
authors: Alyasin
authors: Mohamad Hassan
authors: MH
authors: Bemanian
authors: Amir Ali
authors: AA
authors: Hamidiyeh
authors: Mohammad Reza
authors: MR
authors: Fazlollahi
authors: Mahmoud Reza
authors: MR
authors: Ashrafi
authors: Anna
authors: A
authors: Isaeian
authors: Ghamartaj
authors: G
authors: Khotaei
authors: Mehdi
authors: M
authors: Yeganeh
authors: Nima
authors: N
authors: Parvaneh
mesh_terms: D017668:Age of Onset; D000417:Albinism / Q000235:genetics* / Q000503:physiopathology; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000075745:rab27 GTP-Binding Proteins
chemical_list: D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins