A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis

Kaya Z., Niu D., YORULMAZ A., TEKİN A., Gursel T.

PEDIATRIC BLOOD & CANCER, cilt.61, sa.8, ss.1457-1459, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61 Konu: 8
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/pbc.24934
  • Sayfa Sayıları: ss.1457-1459


Phytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in ABCG5 and ABCG8 genes. A 9-year-old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of ABCG5 and ABCG8 genes revealed a novel homozygous IVS10-1 G>T mutation in ABCG5 gene. Four of the 13 family members had xanthoma but they had neither hematologic abnormalities nor IVS10-1 G>T mutation. Ezetimibe therapy reduced plant sterol levels in association with marked clinical improvement. Plant sterol levels and ABCG5/ABCG8 genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia. Pediatr Blood Cancer 2014; 61:1457-1459. (c) 2014 Wiley Periodicals, Inc.