title: Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.
abstract: Congenital factor XIII (FXIII) deficiency is a rare autosomal recessive bleeding disorder mainly caused by mutations in the F13A1 gene on 6p25.1, which lead to defective A subunit of FXIII. We herein describe two unrelated Korean patients with congenital FXIII deficiency. Proband 1 (a 30-year-old man) and Proband 2 (a 10-year-old girl) presented with severe bleeding episodes (huge intramuscular hematoma and acute intracerebral hemorrhage). Coagulation screening tests for bleeding diathesis were normal, but the FXIII activity was undetectable on urea clot lysis assay. The molecular genetic analysis of F13A1 revealed two mutations in the patients: Proband 1 was homozygous for a previously reported mutation c.1984C>T (p.Arg662) and Proband 2 was compound heterozygous for c.1029T>A (p.His343Gln) and c.1984C>T (p.Arg662). His343Gln was a novel missense mutation occurring in the core domain of the FXIII A subunit. This is the first report of genetically confirmed FXIII deficiency in Korea, with novel and recurrent F13A1 mutations.
authors.affiliation: aDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine bDepartment of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea cSamsung Biomedical Research Institute, Samsung Medical Center *Mi-Ae Jang and Young Shil Park contributed equally to the writing of this article.
authors.forename: Mi-Ae
authors.initials: MA
authors.lastname: Jang
authors.forename: Young Shil
authors.initials: YS
authors.lastname: Park
authors.forename: Ki-O
authors.initials: KO
authors.lastname: Lee
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
mesh_terms: D000328:Adult; D002648:Child; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000097:blood / Q000151:congenital* / Q000235:genetics*; D026122:Factor XIIIa / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D056910:Republic of Korea
chemical_list: C064015:factor XIII subunit A; D005176:Factor XIII; D026122:Factor XIIIa