scholarly journals Hereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene

2021 ◽  
Author(s):  
Riko Takimoto‐Ito ◽  
Naotomo Kambe ◽  
Kazushi Izawa ◽  
Takahiro Yasumi ◽  
Kenji Kabashima
Keyword(s):  
Hereditary Angioedema ◽  
Novel Mutation ◽  
Serping1 Gene

scholarly journals A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, “1033G>T”, at the SERPING1 gene

2019 ◽  
Vol 36 (4) ◽  
pp. 403-411
Author(s):  
Mehmet Ozkars ◽  
Ozlem Keskın ◽  
Nazan Bayram ◽  
Huseyin Onay ◽  
Mehmet Keskın ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Index Case ◽  
Novel Mutation ◽  
Serping1 Gene

scholarly journals Screening for Plasminogen Mutations in Hereditary Angioedema Patients

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 402
Author(s):  
Henriette Farkas ◽  
Anna Dóczy ◽  
Edina Szabó ◽  
Lilian Varga ◽  
Dorottya Csuka
Keyword(s):  
Gene Mutation ◽  
Hereditary Angioedema ◽  
Unknown Origin ◽  
Factor Xii ◽  
Gene Encoding ◽  
New Techniques ◽  
Ex Post ◽  
Appropriate Therapy ◽  
Exon 9 ◽  
Serping1 Gene

Hereditary angioedema (HAE) is a rare disease belonging to the group of bradykinin-mediated angioedemas, characterized by recurring edematous episodes involving the subcutaneous and/or submucosal tissues. Most cases of HAE are caused by mutations in the SERPING1 gene encoding C1-inhibitor (C1-INH-HAE); however, mutation analysis identified seven further types of HAE: HAE with Factor XII mutation (FXII-HAE), with plasminogen gene mutation (PLG-HAE), with angiopoietin-1 gene mutation (ANGPT1-HAE), with kininogen-1 gene mutation (KNG1-HAE), with a myoferlin gene mutation (MYOF-HAE), with a heparan sulfate-glucosamine 3-sulfotransferase 6 (HS3ST6) mutation, and hereditary angioedema of unknown origin (U-HAE). We sequenced DNA samples stored from 124 U-HAE patients in the biorepository for exon 9 of the PLG gene. One of the 124 subjects carried the mutation causing a lysine to glutamic acid amino acid exchange at position 330 (K330E). Later, the same PLG mutation was identified in the patient’s son. The introduction of new techniques into genetic testing has increased the number of genes identified. As shown by this study, a biorepository creates the means for the ex-post analysis of recently identified genes in stored DNA samples of the patients. This makes the diagnosis more accurate with the possibility of subsequent family screening and the introduction of appropriate therapy.

scholarly journals Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene

PLoS ONE ◽  
2013 ◽  
Vol 8 (2) ◽  
pp. e56712 ◽  
Author(s):  
Matija Rijavec ◽  
Peter Korošec ◽  
Mira Šilar ◽  
Mihaela Zidarn ◽  
Jovan Miljković ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Novel Mutations ◽  
Nationwide Study ◽  
Serping1 Gene

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema

2016 ◽  
Vol 397 (4) ◽  
pp. 337-344 ◽  
Author(s):  
Nathália Cagini ◽  
C.L. Veronez ◽  
R.N. Constantino-Silva ◽  
Márcia Buzolin ◽  
Renan Paulo Martin ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Genetic Analysis ◽  
Hereditary Angioedema ◽  
Autosomal Dominant ◽  
Missense Mutations ◽  
Inherited Disease ◽  
Coding Region ◽  
Serping1 Gene ◽  
Brazilian Cohort ◽  
New Mutations

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.

scholarly journals Molecular genetic diagnosis of hereditary angioedema

2021 ◽  
Vol 18 (1) ◽  
pp. 25-35
Author(s):  
I. E. Guryanova ◽  
Yu. S. Zharankova ◽  
E. A. Polyakova ◽  
V. V. Pugacheva ◽  
K. Ya. Skapavets ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Unknown Origin ◽  
Normal Activity ◽  
Type I ◽  
Factor Xii ◽  
C1 Inhibitor Deficiency ◽  
Serping1 Gene ◽  
Deficiency Type

Hereditary angioedema (HAE) is a rare genetic condition currently subdivided into two groups: HAE due to C1-inhibitor deficiency (Type I) or dysfunction (Type II) (C1-INH-HAE) and HAE with normal activity of C1‐INH (nC1- INH-HAE). C1-INH-HAE is estimated to occur in approximately 99 % of cases HAE and is caused by sequence variants in the SERPING1 gene. The prevalence of nC1-INH-HAE is extremely low and accounts for about 1 % of all cases of HAE. nC1-INH-HAE currently subdivided on HAE, due to mutations in factor XII (FXII-HAE), plasminogen (PLG-HAE), angiopoietin 1 (ANGPT1-HAE), kininogen 1 gene (KNG1-HAE), or angioedema of unknown origin (U-HAE).The amplicons of the entire coding regions and splice-sites of 18 genes from 24 patients (18 female) belonging to 17 families were analyzed by Next Generation Sequencing (NGS). The median age of patients was 33.5, of onset ‒ 16 years. 15 patients had a family history of edema.We identified seven C1-INH-HAE patients and variants were detected in the SERPING1 gene. For three patients (members of the same family), a heterozygous variant was found deep in the intron of the SERPING1 gene, which is likely to affect protein synthesis. We identified two patients with changes in the PLAUR gene, which may be associated with the manifestation of symptoms angioedema. Six patients showed abnormalities in the genes AGT and KNG1, which can probably explain their early hypertension, which could provoke the appearance of edema.

scholarly journals Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ying-Yang Xu ◽  
Jian-Qing Gu ◽  
Yu-Xiang Zhi
Keyword(s):  
Mrna Expression ◽  
Hereditary Angioedema ◽  
Stop Codon ◽  
Genetic Disorder ◽  
Premature Stop Codon ◽  
C1 Inhibitor ◽  
Serping1 Gene ◽  
Central Loop

Abstract Background Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1-inbitor gene SERPING1 and are classified as type 1 and type 2. We aimed to detect mutations in the SERPING1 gene and evaluate its expression in nine probands with hereditary angioedema from nine different families. Methods Nine probands with hereditary angioedema from nine different families and 53 healthy controls were recruited in this study. All eight exons and intron–exon boundaries in the SERPING1 gene were amplified by PCR and then sequenced. Mutations were identified by alignment with reference sequences. mRNA expression was measured by real-time PCR. Results All probands were diagnosed with HAE type 1. Nine mutations were found in nine patients: c.44delT, c.289C<T, c.296_303delCCATCCAA, c.538C<T, c.786_787insT, c.794 G < A, c.939delT, c.1214_1223delCCAGCCAGGA, and c.1279delC. All mutations formed a premature stop codon that might lead to the impaired synthesis of C1 inhibitor and result in the deficiency of this protein. None of the detected mutations were observed in the controls. In the C1-INH-HAE group, SERPING1 mRNA expression was significantly reduced (20% of the normal average level) compared to controls. Conclusions Three known and six novel mutations in the SERPING1 gene were identified, and they produced a truncated nonfunctional C1 inhibitor without a reactive central loop. All the mutations led to reduced expression of SERPING1 mRNA in peripheral blood and low antigenic C1 inhibitor levels.

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