Sunday, 7 December 2014: 15:30 - 15:50
Exhibition Hall-Poster Area (Sul America)
Jéssica Goedert Pereira, Medicine Student
,
Medicina, Universidade Federal De Santa Catarina - Ufsc, Florianópolis - SC, Brazil
Edelton Flávio Morato, PhD
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Microbiologia, Imunologia e Parasitologia/ MIP, Universidade Federal De Santa Catarina/ Centro De Ciências Biológicas - CCB/Ufsc, Florianópolis - SC, Brazil
Maria Madalena Luz, Nurse
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Ambulatório De Alergia, Hospital Universitário Polydoro Ernani De São Thiago - HU/Ufsc, Florianópolis - SC, Brazil
Nathália Cagini
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Departamento De Biofísica / Centro De Pesquisa e Diagnóstico Molecular De Doenças Genéticas, Universidade Federal De São Paulo - Escola Paulista De Medicina, São Paulo, Brazil
Camila Lopes Veronez
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Departamento De Biofísica / Centro De Pesquisa e Diagnóstico Molecular De Doenças Genéticas, Universidade Federal De São Paulo - Escola Paulista De Medicina, São Paulo -SP, Brazil
João Bosco Pesquero, PhD
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Departamento De Biofísica / Centro De Pesquisa e Diagnóstico Molecular De Doenças Genéticas, Universidade Federal De São Paulo - Escola Paulista De Medicina, São Paulo, Brazil
Jane Da Silva, PhD
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Ambulatório De Alergia / Núcleo De Avaliação De Reações Do Tipo Alérgico a Drogas- Nartad, Hospital Universitário Polydoro Ernani De São Thiago - HU/Ufsc, Florianópolis - SC, Brazil
Background: Hereditary angioedema (HAE) types I and II (due to quantitative and qualitative C1-INH deficiency, respectively) is a rare autosomal dominant condition in which more than 300 different mutations in the entire C1-INH gene (SERPING1) have been described. The objective of this study is to identify and characterize the mutation in the SERPING1 gene in a family of HAE outpatients from the allergy service of the University Hospital at Universidade Federal de Santa Catarina.
Methods: DNA was extracted from peripheral blood of 12 symptomatic members of the same family. All the eight exons, the flanking regions and splicing sites of the SERPING 1 gene were analyzed by Sanger sequencing. Analysis was performed by capillary electrophoresis and the electropherograms produced were aligned against the reference sequence of the SERPING1 gene in the GenBank (Accession Number NG_009625.1).
Results: Subjects age ranged from 4 to 58 years (33 + 15 years), composed by 11 females (n=91,7%) and 1 male (n=8,3%). DNA sequencing revealed a new mutation in the exon 7 of the SERPING1 gene, a deletion of one single base in heterozygosis (c.1104delA) leading to the frameshift alteration p.D69fsX96. This mutation was found in seven of the 12 patients (all females), all of them presenting clinical symptoms and low C1-INH plasma levels. The other five family members who reported themselves as symptomatic did not show altered levels of C4, C1q, or C1INH, and gene mutation was not found in these subjects.
Conclusions: This study allowed the establishment of the molecular basis of a type I HAE in a Brazilian family. The finding of a SERPING1 gene mutation will allow better diagnosis and genetic counseling in the other members of the family.
