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Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.

. 2020 Mar;18(3):215-223. doi:10.1111/ddg.14036. Epub 2020 Feb 17
Konrad Bork 1 , Arne Zibat 2 , David M Ferrari 3 , Bernd Wollnik 2 , Michael P Schön 3 , Karin Wulff 4 , Undine Lippert 3
Konrad Bork 1 , Arne Zibat 2 , David M Ferrari 3 , Bernd Wollnik 2 , Michael P Schön 3 , Karin Wulff 4 , Undine Lippert 3
+ et al

[No authors listed]

Author information
  • 1 Department of Dermatology, Johannes Gutenberg University, Mainz, Germany.
  • 2 Institute of Human Genetics, Georg August University of Göttingen, Göttingen, Germany.
  • 3 Department of Dermatology and Allergology, University Medical Center Göttingen, Göttingen, Germany.
  • 4 University Medicine, Ernst Moritz Arndt University, Greifswald, Germany.

摘要


BACKGROUND:Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown. PATIENTS AND METHODS:We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1-INH and C4 as well as gene sequencing. RESULTS:Patients' symptoms were assigned to two different forms of HAE. In ten patients suffering from swelling of the lips or tongue but not of the extremities, a mutation in the PLG gene (c.988A>G) was found whereas in the only four patients with swelling of the gastrointestinal tract and extremities, a mutation in the SERPING1 gene (c.1480C>T) was identified. In two cases this was additional to PLG c.988A>G. CONCLUSIONS:This unique finding of two different HAE-specific mutations in a large family not only explains the divergent phenotypes but also supports a genotype-phenotype correlation showing that abdominal attacks and swelling of the extremities are common with HAE-C1-INH but unusual with HAE-PLG.