title: A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency.
abstract: Inherited antithrombin (AT) deficiency (OMIM 107300) is an autosomal dominant disorder and causes a 20-fold increase in the risk of venous thromboembolism. Herein, we describe a case of a novel splice-site mutation in the SERPINC1 gene in a Korean patient with inherited AT deficiency. The patient was a 35-year-old woman who presented with deep vein thrombosis (DVT) and pulmonary embolism and was without a recent history of any precipitating factors. The obtaining of her family history revealed that her mother had an ischemic stroke and a pulmonary embolism and her two sisters both had an episode of DVT during pregnancy. DNA sequencing of SERPINC1 revealed the novel variant IVS1-2A>T (c.42-2A>T), a substitution in intron 1, in the proband and her daughter. The mutation IVS1-2A>T eliminates the acceptor splice-site of intron 1. The present case is the first novel splice-site mutation of SERPINC1 in a Korean family with inherited AT deficiency.
authors: Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Gyeonggido, Korea.
authors: Moon Ju
authors: MJ
authors: Jang
authors: Jeong-Guil
authors: JG
authors: Lee
authors: So Young
authors: SY
authors: Chong
authors: Ji Young
authors: JY
authors: Huh
authors: Mi-Ae
authors: MA
authors: Jang
authors: Hee-Jin
authors: HJ
authors: Kim
authors: Doyeun
authors: D
authors: Oh
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency / Q000150:complications / Q000151:congenital / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011655:Pulmonary Embolism / Q000150:complications / Q000235:genetics*; D022821:RNA Splice Sites; D056910:Republic of Korea; D035781:Siblings; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; C542513:SERPINC1 protein, human; D000990:Antithrombin III