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  • Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene [Elektronski vir]
    Rijavec, Matija ...
    Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by swelling of the face, lips, tongue, larynx, genitalia, or extremities, with abdominal pain caused by intra-abdominal ... edema. HAE is caused by mutations affecting the C1 inhibitor gene, SERPING1, resulting in low levels of C1 inhibitor (Type I HAE) or normal levels of ineffective C1 inhibitor (Type II HAE). A nationwide survey identified nine unrelated families with HAE in Slovenia, among whom 17 individuals from eight families were recruited for genetic analyses. A diagnosis of HAE was established in the presence of clinical and laboratory criteria (low C1 inhibitor antigenic levels and/or function), followed up by a positive family history. Genetic studies were carried out using PCR and sequencing to detect SERPING1 mutations in promoter, noncoding exon 1, the 7 coding exons, and exon-intron boundaries. Multiplex ligation-dependent probe amplification was performed in order to search for large deletions/duplications in SERPING1 gene. A mutation responsible for HAE was identified in patients from seven families with the disease. In HAE type I families, one previously reported substitution (Gln67Stop, c.265C.T) and four novel mutations were identified. The new mutations included two missense substitutions, Ser128Phe (c.449C.T), and Glu429Lys (c.1351G.A), together with two frameshift mutations, indel (c.49delGinsTT) and deletion (c.593_594delCT). Both families with HAE type II harbored the two well-known substitutions affecting the arginyl residue at the reactive center in exon 8, Arg444Cys (c.1396C.T) and Arg444His (c.1397G.A), respectively. In one patient only the homozygous variant g.566T.C (c.-21T.C) was identified. Our study identified four novel mutations in the Slovenian HAE population, highlighting the heterogeneity of mutations in the SERPING1 gene causing C1 inhibitor deficiency and HAE. In a single patient with HAE a homozygous variant g.566T.C (c.-21T.C) might be responsible for the disease.
    Source: PloS one [Elektronski vir]. - ISSN 1932-6203 (Vol. 8, issue 2, Feb. 2013, str. [1-6])
    Type of material - e-article ; adult, serious
    Publish date - 2013
    Language - english
    COBISS.SI-ID - 4586815

    Link(s):

    http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0056712
    DOI

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