Frontiers in Genetics (Sep 2022)
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome
- Yu Wang,
- Yu Wang,
- Yu Wang,
- Yu Wang,
- Hanqing Song,
- Hanqing Song,
- Hanqing Song,
- Hanqing Song,
- Lingling Yu,
- Lingling Yu,
- Lingling Yu,
- Lingling Yu,
- Nan Wu,
- Nan Wu,
- Nan Wu,
- Nan Wu,
- Xiaodong Zheng,
- Xiaodong Zheng,
- Xiaodong Zheng,
- Xiaodong Zheng,
- Bo Liang,
- Bo Liang,
- Bo Liang,
- Bo Liang,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang
Affiliations
- Yu Wang
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Yu Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Yu Wang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Yu Wang
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Hanqing Song
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Hanqing Song
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Hanqing Song
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Hanqing Song
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Lingling Yu
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Lingling Yu
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Lingling Yu
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Lingling Yu
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Nan Wu
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Nan Wu
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Nan Wu
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Nan Wu
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Xiaodong Zheng
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Xiaodong Zheng
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Xiaodong Zheng
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Xiaodong Zheng
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Bo Liang
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Bo Liang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Bo Liang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Bo Liang
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Peiguang Wang
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Peiguang Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Peiguang Wang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Peiguang Wang
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- DOI
- https://doi.org/10.3389/fgene.2022.943264
- Journal volume & issue
-
Vol. 13
Abstract
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic predisposition. The disease is caused by a mutation in the SPINK5 gene (serine protease inhibitor of Kazal type 5) encoding LEKTI (lymphoepithelial Kazal type-related inhibitor). We performed whole-exome sequencing on one Chinese NS family and made genotype–phenotype correlation analysis on the patients clinically diagnosed with NS or congenital ichthyosis erythroderma. We identified a novel frameshift mutation c.2474_2475del (p.Glu825Glyfs*2) in the SPINK5 gene. The N-terminal mutations of LEKTI cause a severer phenotype, while the C-terminal mutations of LEKT1 are related to a milder phenotype. Our findings suggest that Netherton syndrome may be underestimated clinically, and our findings further expand the reservoir of SPINK5 mutations in Netherton syndrome.
Keywords
