Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain

Molecular Immunology
Saied A JaradatHazem Haddad

Abstract

Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is an autosomal dominant disease caused by mutations in the SERPING1 gene. A Jordanian family, including 14 individuals with C1-INH-HAE clinical symptoms, was studied. In the propositus and his parents, SERPING1 had four mutations leading to amino acid substitutions. Two are known polymorphic variants (c.167T>C; p.Val34Ala and c.1438G>A; p.Val458Met), the others are newly described. One (c.203C>T; p.Thr46Ile) is located in the N-terminal domain of the C1-inhibitor protein and segregates with angioedema symptoms in the family. The other (c.800C>T; p.Ala245Val) belongs to the serpin domain, and derives from the unaffected father. DNA from additional 24 family members were screened for c.203C>T mutation in the target gene. All individuals heterozygous for the c.203C>T mutation had antigenic and functional plasma levels of C1-inhibitor below 50% of normal, confirming the diagnosis of type I C1-INH-HAE. Angioedema symptoms were present in 14 of 16 subjects carrier for the c.203T allele. Among these subjects, those carrying the c.800T variation had more severe and frequent symptoms than subjects without this mutation. This family-based study provides the first evidence...Continue Reading

References

Sep 27, 2000·Biochimica Et Biophysica Acta·I Simonovic, P A Patston
Aug 31, 2002·Nucleic Acids Research·Vasily RamenskyShamil Sunyaev
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Oct 8, 2005·The Journal of Allergy and Clinical Immunology·Martijn B A van DoornJan Nuijens
Jul 4, 2006·Clinical Genetics·S GuarinoG Novelli
May 10, 2007·The Journal of Biological Chemistry·László BeinrohrPéter Závodszky
Sep 16, 2009·International Archives of Allergy and Immunology·Muhammad Faiyaz-Ul-HaqueSyed H E Zaidi
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Oct 1, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Sonia CacciaMassimo Cugno
Jul 31, 2012·The Journal of Allergy and Clinical Immunology·Konrad BorkGünther Witzke
Mar 29, 2014·Allergy·M CicardiUNKNOWN HAWK under the patronage of EAACI (European Academy of Allergy and Clinical Immunology)
Dec 30, 2014·Pediatric Allergy, Immunology, and Pulmonology·Sonia CacciaMarco Cicardi

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Citations

Jun 5, 2018·Clinical Nursing Research·José Granero-MolinaJosé Manuel Hernández-Padilla
Oct 20, 2020·The European Journal of Neuroscience·Justin TanPhillip I Bird

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