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- Title
Two novel mutations of the γ‐secretase genes in Chinese acne inversa (hidradenitis suppurativa).
- Authors
Qian, Yue‐Tong; Xiao, Meng; Liu, Keqiang; Ma, Dong‐Lai; Zhang, Xue
- Abstract
Keywords: acne inversa; NCSTN; novel mutations; PSENEN; -secretase EN acne inversa NCSTN novel mutations PSENEN -secretase 643 644 2 04/05/22 20220401 NES 220401 Acne inversa (AI, OMIM #142690), also called hidradenitis suppurativa (HS), is a chronic, inflammatory, recurrent and debilitating skin follicular disease that usually presents after puberty with painful, deep-seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axilla, inguinal and anogenital regions. After the written informed consent was obtained, an in-house panel-based targeted next-generation sequencing revealed a novel frame shift mutation c.1555dupA in I NCSTN i in patient 1 (Figure 1G). In conclusion, herein, we reported two novel mutations of -secretase genes in two Chinese families with AI, which expanded the mutation spectrum of -secretase genes underlying AI.
- Subjects
HIDRADENITIS suppurativa; MEDICAL sciences; GENETIC mutation; MEDICAL genetics; AMYLOID beta-protein precursor
- Publication
Experimental Dermatology, 2022, Vol 31, Issue 4, p643
- ISSN
0906-6705
- Publication type
Article
- DOI
10.1111/exd.14496