title: Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran.
abstract: The aim of this study was to review the literature for the genetic mutations causing inherited factoe XIII (FXIII) deficiency in patients from Iran, where the consanguineous marriage is common. Data were collected from 30 patients (18 males and 12 females) with FXIII deficiency, from 26 unrelated families. Data of mutation analysis were obtained from 2 previously published studies. A total of 7 mutations consisting of 5 new mutations and 2 previously reported mutations were identified. Of the 5 novel missense mutations, 2, Arg77His and Trp187Arg, were the most common in Iranian FXIII-deficient patients. In regions like Iran with high rate of consanguineous marriages, the identification of common mutations in disease like severe FXIII deficiency increases the capacity to make a precise screening and diagnosis assays to screen and diagnose families with high risk of FXIII deficiency for prevention of clinical complications in them.
authors.affiliation: Mophid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Peyman
authors.initials: P
authors.lastname: Eshghi
authors.forename: Nader
authors.initials: N
authors.lastname: Cohan
authors.forename: Manigeh
authors.initials: M
authors.lastname: Lak
authors.forename: Majid
authors.initials: M
authors.lastname: Naderi
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.forename: Marzia
authors.initials: M
authors.lastname: Menegatti
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
mesh_terms: D019943:Amino Acid Substitution; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000453:epidemiology / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D020125:Mutation, Missense
chemical_list: D005176:Factor XIII