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.
Departments of *Medical Genetics
‡Internal Medicine, Ege University Medical Faculty
¶Department of Hematology, Dr Behcet Uz Children’s Hospital, Izmir
§Department of Pediatric Hematology, Gulhane Military Medical Faculty, Ankara
∥Department of Pediatrics, Yuzuncu Yil University Medical Faculty, Van, Turkey
The authors declare no conflict of interest.
Reprints: Asude Durmaz, MD, PhD, Department of Medical Genetics, Ege University Medical Faculty, 35100 Izmir, Turkey (e-mail: email@example.com).
Received February 9, 2012
Accepted June 29, 2012