The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa
Although this variant has been reported previously, our findings could expand the spectrum of co-occurrence of PC and AI with <i>KRT17</i> gene variants, and elucidated the possible pathogenesis at the protein level, thereby laying a foundation for the genetic diagnosis and genetic counseling provided to individuals with PC.
Authors
- D. Chu Miow Lin (ORCID: https://orcid.org/0009-0006-0489-9502)
- Lanfang Dong (ORCID: https://orcid.org/0000-0003-2486-2177)
- Xiangqi Chen (ORCID: https://orcid.org/0000-0003-3367-6261)
- Changhua Zhu
- Jingjing Liu (ORCID: https://orcid.org/0000-0002-3362-8270)
- Huaiyu Wang (ORCID: https://orcid.org/0000-0002-6428-081X)
- Baofeng Wu
- Xuemin Xiao
- Lihang Lin (ORCID: https://orcid.org/0000-0002-7007-4676)
Institutions
- Fujian Medical University (CN)
- Union Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-11-13
- DOI
- https://doi.org/10.3389/fgene.2024.1365581
- Citations
- 1
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Natural Science Foundation of Fujian Province