title: A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
abstract: 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.
authors.affiliation: Pediatric Hematology, Department of Pediatrics, Medical School of Gazi University, Ankara, Turkey.
authors.forename: Zühre
authors.initials: Z
authors.lastname: Kaya
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.forename: Aslı
authors.initials: A
authors.lastname: Yorulmaz
authors.forename: Aziz
authors.initials: A
authors.lastname: Tekin
authors.forename: Türkiz
authors.initials: T
authors.lastname: Gürsel
mesh_terms: D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000924:Anticholesteremic Agents / Q000008:administration & dosage; D001384:Azetidines / Q000008:administration & dosage; D002648:Child; D000069438:Ezetimibe; D006402:Hematologic Diseases / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D007410:Intestinal Diseases / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D008074:Lipoproteins / Q000235:genetics*; D008297:Male; D010840:Phytosterols / Q000009:adverse effects* / Q000235:genetics; D017354:Point Mutation
chemical_list: C416945:ABCG5 protein, human; C416946:ABCG8 protein, human; D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters; D000924:Anticholesteremic Agents; D001384:Azetidines; D008074:Lipoproteins; D010840:Phytosterols; D000069438:Ezetimibe
keywords: ABCG5 gene; novel mutation; phytosterolemia