Griscelli syndrome: Rab 27a mutation.
An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.
Sheela
S R
SR
Department of Pediatrics, Indira Gandhi Co-operative Hospital, Kadavanthra, Cochin, Kerala 682 020, India. sheelaknpn@hotmail.com
Latha
Manoj
M
Injody
Susy J
SJ
D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D018389:Codon, Nonsense; D003937:Diagnosis, Differential; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D008544:Melanocytes / Q000473:pathology; D016116:Piebaldism / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000075745:rab27 GTP-Binding Proteins
D018389:Codon, Nonsense; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins