A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report
Author:
Affiliation:
1. Department of Dermatology and Venereology, Yıldırım Beyazit University , Ankara , Turkey
2. Department of Medical Genetics, Ankara City Hospital , Ankara , Turkey
Abstract
Publisher
Walter de Gruyter GmbH
Subject
Genetics (clinical),Genetics
Link
https://www.sciendo.com/pdf/10.2478/bjmg-2020-0012
Reference20 articles.
1. Netherton EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm. 1958; 78(4): 483-487.
2. Wilkinson RD, George HC, William AH. Netherton’s disease: Trichorrhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and the atopic diathesis. A histopathologic study. Arch Dermatol. 1964; 89(1): 46-54. doi: 10.1001/archderm. 1964.0159025005 2010.
3. Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, et al. Netherton syndrome: A genotype-phenotype review. Mol Diag Ther. 2017; 21(2): 137-152.
4. Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet. 2012; 57(5): 311-315.
5. Zhang X-B, Zhang S-Q, He Y-Q, Luo Y-W, Luo Q, Li C-X. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI. Indian J Dermatol. 2012; 57(4): 265-268.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome;Frontiers in Genetics;2022-09-09
2. Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis;Genes;2021-03-05
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