Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency
Copyright policy )Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency
AbstractIntroductionCongenital factor X (FX) deficiency is a rare bleeding disorder inherited as an autosomal recessive trait with an incidence of 1 : 500 000–1 000 000. A total or partial deficiency of FX causes an impairment of clot formation, leading to a haemorrhagic disease, which manifests with bleeding symptoms of different severity, also unprovoked.AimWe analysed the clinical manifestations, laboratory phenotype and genotype in 12 patients from Turkey affected with severe FX deficiency.MethodsProthrombin time (PT), activated partial thromboplastin time (APTT), FX activity (FX:C) and FX antigen level (FX:Ag) were measured, and mutation analysis was performed for all patients.ResultsThe most frequent bleeding episodes in patients were epistaxis and easy bruising (11/12, 91%), followed by haemarthroses (10/12, 83%). FX:C was <1% in 11 patients, and 4% in one. FX:Ag was reduced in all patients, consistent with type II deficiency. Direct sequencing of the factor X gene (F10) identified two different mutations: the novel 33 bp in‐frame deletion p.Thr176_Gln186, c.526_558del, which seems to be associated with milder bleeding symptoms and the c.785G>A, p.Gly262Asp missense mutation (previously reported as Gly222Asp), which is associated with severe bleeding symptoms.ConclusionThe p.Gly262Asp missense mutation was identified in 11 of the 12 patients in this study. Previously published cases on the same p.Gly262Asp mutation were Iranian patients originating from the border between Turkey and Iran suggesting that this mutation may be candidate as a good tool for mutational screening analysis in this area.
- University of Milan Italy
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Italy
- Yüzüncü Yıl University Turkey
- Boston Children's Hospital United States
Adult, Male, Adolescent, Genotype, Turkey, Molecular Sequence Data, Mutation, Missense, Hemorrhage, Factor X; Factor X deficiency; genotype-phenotype association; haemorrhage; rare bleeding disorders; Adolescent; Adult; Child; Child, Preschool; Factor X Deficiency; Female; Genotype; Hemorrhage; Humans; Male; Molecular Sequence Data; Mutation, Missense; Phenotype; Turkey; Young Adult, Young Adult, Phenotype, Child, Preschool, Humans, Female, Child, Factor X Deficiency
Adult, Male, Adolescent, Genotype, Turkey, Molecular Sequence Data, Mutation, Missense, Hemorrhage, Factor X; Factor X deficiency; genotype-phenotype association; haemorrhage; rare bleeding disorders; Adolescent; Adult; Child; Child, Preschool; Factor X Deficiency; Female; Genotype; Hemorrhage; Humans; Male; Molecular Sequence Data; Mutation, Missense; Phenotype; Turkey; Young Adult, Young Adult, Phenotype, Child, Preschool, Humans, Female, Child, Factor X Deficiency
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