Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene
نویسندگان
چکیده
منابع مشابه
A Case of Type 2 Hereditary Angioedema With SERPING1 Mutation
Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of...
متن کاملA new mutation in the SERPING1 gene in a Brazilian family with hereditary angioedema
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...
متن کاملMutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in other countries, the genetic background of the Swiss HAE patients has not yet been elucidated. In the...
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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 nation...
متن کاملA hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop).
In this study, we describe a novel thrombomodulin (TM) mutation (c.1611C>A) that codes for a change from cysteine 537 to a premature stop codon (p.Cys537Stop). Three members of a family with a history of posttraumatic bleeding were identified to be heterozygous for this TM mutation. All coagulation screening tests, coagulation factor assays, and platelet function test results were within normal...
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ژورنال
عنوان ژورنال: Clinical and Translational Allergy
سال: 2020
ISSN: 2045-7022
DOI: 10.1186/s13601-020-00360-9