Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema

Abstract

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 present study we investigated the mutational spectrum of the SERPING1 gene in 19 patients of nine unrelated Swiss families. The families comprise a total of 111 HAE-affected subjects which corresponds to approximately 70% of all HAE-affected patients living in Switzerland. Three of the identified mutations are newly described. Members of family A with a nucleotide duplication as genetic background seem to have a more intense disease manifestation with a higher attack frequency compared to the other families. Newly designed genetic screening tests allow a fast and cost-efficient testing for HAE in other family members.

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

“…Missense mutations in exon 7 and 8 were the most common mutations in our cohort. Mutation spectrum in SERPING1 gene is quite heterogeneous and more than 450 mutations spread over the entire gene have been reported so far 33,58–61 . Missense mutations have been reported to be the most common mutations in SERPING1 gene 8,62–64 .…”

“…Mutation spectrum in SERPING1 gene is quite heterogeneous and more than 450 mutations spread over the entire gene have been reported so far. 33,[58][59][60][61] Missense mutations have been reported to be the most common mutations in SERPING1 gene. 8,[62][63][64] while some populations have reported that nonsense or frameshift mutations are most common.…”

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

“…Mutation spectrum in SERPING1 gene is quite heterogeneous and more than 450 mutations spread over the entire gene have been reported so far. 33,[56][57][58][59] Missense mutations have been reported to be the most common mutations in SERPING1 gene. 8,[60][61][62] while some populations have reported that nonsense or frameshift mutations are most common.…”

Hereditary angioedema in Austria: prevalence and regional peculiarities

“…Switzerland, a neighboring country, has nearly the same number of inhabitants as Austria and similar numbers of C1‐INH‐HAE patients; an investigation yielded 111 affected patients, who are believed to constitute 70 % of all HAE patients in Switzerland . A handful of national studies have been performed on the prevalence of HAE.…”