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, sa.7, ss.541-544, 2012 (SCI-Expanded) identifier identifier identifier

  • 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
  • Van Yüzüncü Yıl 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.