Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

Ran Fang; Jun Wang; Xiao-Yun Jiang; Shi-Hao Wang; Hao Cheng; Qing Zhou

doi:10.3389/fgene.2021.673453

Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

Front Genet. 2021 Aug 10:12:673453. doi: 10.3389/fgene.2021.673453. eCollection 2021.

Authors

Ran Fang¹, Jun Wang¹, Xiao-Yun Jiang², Shi-Hao Wang¹, Hao Cheng², Qing Zhou¹

Affiliations

¹ The MOE Key Laboratory of Biosystems Homeostasis and Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.
² Department of Dermatology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Abstract

Pyoderma gangrenosum (PG) is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Ulcerations associated with PG may occur after trauma or injury to the skin. The etiology has not been clearly elucidated. Our report described a PG patient with a heterozygous splice-donor-site mutation in NFKB1 (c.730+5G>A) causing the absence of exon 8 and the formation of truncated p105 (p.Asp191_Lys244delinsGlu; p105delEx8), which led to distinct symptoms of high fever and excessive inflammation in wound area after routine surgical procedures. The functional analysis showed that the variant caused reduced phosphorylation of p105 and resulted in the decreased processing of p105 to p50. We conclude that the patient's symptoms were caused by dysregulation of the NF-κB signaling pathway.

Keywords: NF-κB signaling pathway; NFKB1; inflammation; novel mutation; pyoderma gangrenosum.

Publication types

Case Reports