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

Kaya Z., Niu D., Yorulmaz A., Tekin A., Gursel T.

Pediatric blood & cancer, cilt.61, sa.8, ss.1457-9, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61 Sayı: 8
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/pbc.24934
  • Dergi Adı: Pediatric blood & cancer
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1457-9
  • Anahtar Kelimeler: ABCG5 gene, novel mutation, phytosterolemia, BETA-SITOSTEROLEMIA, MACROTHROMBOCYTOPENIA, POLYMORPHISMS, CHOLESTEROL, DISEASE
  • Gazi Üniversitesi Adresli: Evet

Özet

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.