Whole Exome Sequencing and Molecular Modeling of a Missense Variant in That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

Authors:
Patrick R Blackburn
Patrick R Blackburn
Center for Individualized Medicine
Upper Darby | United States
Jennifer M Gass
Jennifer M Gass
Mayo Clinic
United States
Thomas R Caulfield
Thomas R Caulfield
Georgia Institute of Technology
United States
Paldeep S Atwal
Paldeep S Atwal
Center for Individualized Medicine
Upper Darby | United States

Case Rep Genet 2018 22;2018:6968395. Epub 2018 Feb 22.

Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.

Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s. Interestingly, both the individual's 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of , denoted as c.65G>A (p.R22Q), in all affected members. Variants in have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease.

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http://dx.doi.org/10.1155/2018/6968395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842716PMC
February 2018
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