title: New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
abstract: Hereditary Angioedema is an autosomal dominant inherited disease leading to oedema attacks with variable severity and localization predominantly caused by C1-INH deficit. More than 400 mutations have been already identified, however no genetic analysis of a Brazilian cohort of HAE patients with C1-INH deficiency has been published. Our aim was to perform genetic analysis of C1-INH gene (SERPING1) in Brazilian HAE patients. We screened the whole SERPING1 coding region from 30 subjects out of 16 unrelated families with confirmed diagnosis of HAE due to C1-INH deficiency. Clinical diagnosis was based on symptoms and quantitative and/or functional analysis of C1-INH. We identified fifteen different mutations among which eight were not previously described according to databases. We found five small deletions (c.97_115del19; c.553delG; c.776_782del7; c.1075_1089del15 and c.1353_1354delGA), producing frameshifts leading to premature stop codons; seven missense mutations (c.498C>A; c.550G>C; c.752T>C; c.889G>A; c.1376C>A; c.1396C>T; c.1431C>A); one nonsense mutation (c.1480C>T), and two intronic alterations (c.51+1G>T; c.51+2T>C). Despite the small number of participants in this study, our results show mutations not previously identified in SERPING1 gene. This study represents the first Brazilian HAE cohort evaluated for mutations and it introduces the possibility to perform genetic analysis in case of need for differential diagnosis.
authors.forename: Nathália
authors.initials: N
authors.lastname: Cagini
authors.forename: C L
authors.initials: CL
authors.lastname: Veronez
authors.forename: R N
authors.initials: RN
authors.lastname: Constantino-Silva
authors.forename: Márcia
authors.initials: M
authors.lastname: Buzolin
authors.forename: Renan Paulo
authors.initials: RP
authors.lastname: Martin
authors.forename: A S
authors.initials: AS
authors.lastname: Grumach
authors.forename: Lício Augusto
authors.initials: LA
authors.lastname: Velloso
authors.forename: Eli
authors.initials: E
authors.lastname: Mansour
authors.forename: João Bosco
authors.initials: JB
authors.lastname: Pesquero
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D054179:Angioedemas, Hereditary / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D001938:Brazil; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human