Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.
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.
Mamishi
Setareh
S
Infectious Disease Research Center, Children's Medical Center, 62 Gharib St, 14194 Tehran, Iran.
Modarressi
Mohammad Hossein
MH
Pourakbari
Babak
B
Tamizifar
Banafshe
B
Mahjoub
Fatemeh
F
Fahimzad
Alireza
A
Alyasin
Soheila
S
Bemanian
Mohamad Hassan
MH
Hamidiyeh
Amir Ali
AA
Fazlollahi
Mohammad Reza
MR
Ashrafi
Mahmoud Reza
MR
Isaeian
Anna
A
Khotaei
Ghamartaj
G
Yeganeh
Mehdi
M
Parvaneh
Nima
N
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
D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins