کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3257043 1207388 2013 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema
چکیده انگلیسی


• The novel mutation p.S318X in SERPING1 gene is here reported for in HAE.
• This nonsense mutation may be pathogenic and segregated with C1-INH deficiency.
• Over a third of Sardinian families affected by HAE type I bear this mutation.
• Mutation recurrence in unrelated families is a pretty unique finding in HAE type I.

Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is an autosomal dominant disorder caused by mutations in SERPING1 gene. More than 200 different mutations are known, with high genetic heterogeneity and high frequency of private familial mutations. We analyzed for genetic mutations the C1-INH locus in 11 Sardinian families, revealing in seven subjects from four unrelated families the novel nonsense mutation S318X. This mutation, detected with unexpected high frequency, accounts for over a third of the here reported Sardinian families affected by HAE. The recurrence of a pathogenic mutation within the same geographical area is a unique finding, previously unreported in HAE due to C1-INH deficiency.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 147, Issue 2, May 2013, Pages 129–132
نویسندگان
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