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

作者：Kaya Zuehre^*; Niu Dau Ming; Yorulmaz Asli; Tekin Aziz; Gursel Turkiz

来源：Pediatric Blood and Cancer, 2014, 61(8): 1457-1459.

DOI：10.1002/pbc.24934

• ABCG5 gene
• novel mutation
• phytosterolemia

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.

• 出版日期2014-8