title: Molecular analysis and clinical findings of Griscelli syndrome patients.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey. asude.alpman@ege.edu.tr
authors.forename: Asude
authors.initials: A
authors.lastname: Durmaz
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Murat
authors.initials: M
authors.lastname: Tombuloglu
authors.forename: Avni
authors.initials: A
authors.lastname: Atay
authors.forename: Orhan
authors.initials: O
authors.lastname: Gursel
authors.forename: Erdal
authors.initials: E
authors.lastname: Peker
authors.forename: Murat
authors.initials: M
authors.lastname: Atmaca
authors.forename: Ferah
authors.initials: F
authors.lastname: Genel
authors.forename: Sibel
authors.initials: S
authors.lastname: Bozabali
authors.forename: Haluk
authors.initials: H
authors.lastname: Akin
authors.forename: Cihangir
authors.initials: C
authors.lastname: Ozkinay
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic; D008297:Male; D009154:Mutation; D016116:Piebaldism / Q000235:genetics*; D000081207:Primary Immunodeficiency Diseases; 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