Skip Navigation LinksHome > October 2012 - Volume 34 - Issue 7 > Molecular Analysis and Clinical Findings of Griscelli Syndro...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31826781ad
Clinical and Laboratory Observations

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*

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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.

© 2012 Lippincott Williams & Wilkins, Inc.

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