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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Kaya Z,Niu DM,Yorulmaz A,Tekin A,Gürsel T

doi

10.1002/pbc.24934

subject

Has Abstract

pub_date

2014-08-01 00:00:00

pages

1457-9

issue

8

eissn

1545-5009

issn

1545-5017

journal_volume

61

pub_type

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