Molecular analysis and clinical findings of griscelli syndrome patients

Durmaz, Asude; Ozkinay, Ferda; Onay, Huseyin; Tombuloglu, Murat; Atay, Avni; GÜRSEL, Orhan; Peker, Erdal; Atmaca, Murat; GENEL, Ferah; Bozabali, Sibel; Akin, Haluk; Ozkinay, Cihangir

doi:10.1097/mph.0b013e31826781ad

Molecular analysis and clinical findings of griscelli syndrome patients

Durmaz A., Ozkinay F., Onay H., Tombuloglu M., Atay A., GÜRSEL O., ...Daha Fazla

Journal of Pediatric Hematology/Oncology, cilt.34, sa.7, ss.541-544, 2012 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 34 Sayı: 7
Basım Tarihi: 2012
Doi Numarası: 10.1097/mph.0b013e31826781ad
Dergi Adı: Journal of Pediatric Hematology/Oncology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.541-544
Anahtar Kelimeler: RAB27A mutations, Griscelli syndrome, phenotype-genotype correlation
Sağlık Bilimleri Üniversitesi Adresli: Evet

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. Copyright © 2012 by Lippincott Williams &Wilkins.