Molecular Analysis and Clinical Findings of Griscelli Syndrome Patients


DURMAZ A., Ozkinay F., ONAY H., TOMBULOĞLU M., Atay A., Gursel O., ...Daha Fazla

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.34, ss.541-544, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 34 Konu: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1097/mph.0b013e31826781ad
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Sayfa Sayıları: ss.541-544

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.