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Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients

Durmaz, Asude MD, PhD; Ozkinay, Ferda MD; Onay, Huseyin MD, PhD; Tombuloglu, Murat MD; Atay, Avni MD; Gursel, Orhan MD; Peker, Erdal MD; Atmaca, Murat MD; Genel, Ferah MD; Bozabali, Sibel MD; Akin, Haluk MD; Ozkinay, Cihangir MD

Journal of Pediatric Hematology/Oncology: October 2012 - Volume 34 - Issue 7 - p 541–544
doi: 10.1097/MPH.0b013e31826781ad
Clinical and Laboratory Observations

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

Pediatric 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:

Received February 9, 2012

Accepted June 29, 2012

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.