Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients
Makaleler > Tam Makale · 2012
Yazarlar: Asude DURMAZ, Feriştah Ferda ÖZKINAY, HÜSEYİN ONAY, Murat TOMBULOĞLU, Avni Atay, Orhan Gursel, Erdal Peker, Murat Atmaca, Ferah Genel, Sibel Bozabali, Haluk AKIN, CİHANGİR ÖZKINAY
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2012, cilt 34, ss 541-544
DOI: 10.1097/mph.0b013e31826781ad
Özet
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.