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      A novel keratin 13 variant in a four‐generation family with white sponge nevus

      case-report

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          Key Clinical Message

          We report a novel KRT13 germ line variant that causes white sponge nevus ( WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma.

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          Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

          J Kraan, Egbert Bakker, Marjon J Mourik … (2008)
          A large number of sequence variants identified in BRCA1 and BRCA2 cannot be distinguished as either disease-causing mutations or neutral variants. These so-called unclassified variants (UVs) include variants that are located in the intronic sequences of BRCA1 and BRCA2. The purpose of this study was to assess the use of splice-site prediction programs (SSPPs) to select intronic variants in BRCA1 and BRCA2 that are likely to affect RNA splicing. We performed in vitro molecular characterization of RNA of six intronic variants in BRCA1 and BRCA2. In four cases (BRCA1, c.81-6T>A and c.4986+5G>T; BRCA2, c.7617+2T>G and c.8754+5G>A) a deleterious effect on RNA splicing was seen, whereas the c.135-15_-12del variant in BRCA1 showed no effect on RNA splicing. In the case of the BRCA2 c.68-7T>A variant, RNA analysis was not sufficient to establish the clinical significance. Six SSPPs were used to predict whether an effect on RNA splicing was expected for these six variants as well as for 23 intronic variants in BRCA1 for which the effect on RNA splicing has been published. Out of a total of 174 predictions, 161 (93%) were informative (i.e., the wild-type splice-site was recognized). No false-negative predictions were observed; an effect on RNA splicing was always predicted by these programs. In four cases (2.5%) a false-positive prediction was observed. For DNA diagnostic laboratories, these programs are therefore very useful to select intronic variants that are likely to affect RNA splicing for further analysis. Copyright 2008 Wiley-Liss, Inc.
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            Down-regulation of keratin 4 and keratin 13 expression in oral squamous cell carcinoma and epithelial dysplasia: a clue for histopathogenesis.

            Norihiko Okada, T Takizawa, Hiroshi Kawachi … (2011)
            This study aimed to identify relevant keratin subtypes that may associate with the pathogenesis of oral epithelial neoplasms. Expression of all the keratin subtypes was examined by cDNA microarray analysis of 43 oral squamous cell carcinoma (OSCC) cases. Immunohistochemical expression of the major keratins was examined in 100 OSCC and oral epithelial dysplasia (OED) cases. Many changes in keratin expression were observed and, significantly, consistent down-regulation of keratin 4 (K4) and K13 expression was observed. Aberrant expression of K4 and K13 was associated with morphological changes in the affected oral epithelium. Experiments with cell cultures transfected with various keratin subtypes suggested that alterations in keratin subtype expression can cause changes in cell shape and movement. Aberrant expression of K4 and K13, which are the dominant pair of differentiation-related keratins in oral keratinocytes, indicates dysregulation of epithelial differentiation in OSCC and OED. These keratins, especially K4, may be useful for pathological diagnosis. We propose that the aberrant expression of K4 and K13 and concomitant up-regulation of the other keratins may be one of the causative factors for morphological alterations in the affected epithelium. © 2011 Blackwell Publishing Limited.
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              A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.

              Irwin McLean, C Munro, D Lunny … (1995)
              White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologically, the plaques show evidence of hyperproliferation, acanthosis and tonofilament aggregation. These types of pathogenic changes are characteristic of many of the epidermal keratin disorders. Keratins are expressed in pairs by epithelial cells in a tissue and cell specific manner. The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7). The tissue distribution and nature of the lesions in patients affected by WSN suggested that mutations in K4 and/or K13 might be responsible for this disorder. We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition.
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                Author and article information

                Contributors
                Frederik J. Hes:
                ORCID: http://orcid.org/0000-0002-3025-0882
                f.j.hes@lumc.nl
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 29 July 2017
                Publication date Collection: September 2017
                Volume: 5
                Issue: 9 ( doiID: 10.1002/ccr3.2017.5.issue-9 )
                Pages: 1503-1509
                Affiliations
                [ 1 ] Department of Gynaecology Leiden University Medical Center Leiden The Netherlands
                [ 2 ] Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands
                [ 3 ] Department of Dermatology Leiden University Medical Center Leiden The Netherlands
                [ 4 ] Department of Pathology Leiden University Medical Center Leiden The Netherlands
                [ 5 ] East of Scotland Genetics Service Ninewells Hospital Dundee UK
                [ 6 ] Centre for Dermatology and Genetic Medicine University of Dundee Dundee UK
                Author notes
                [*] [* ] Correspondence

                Frederik J. Hes, Department of Clinical Genetics, Leiden University Medical Center, Leiden, POBox 9600, K5‐R, 2300RC, The Netherlands. Tel: +31715268033; Fax: +31716749; E‐mail: f.j.hes@ 123456lumc.nl

                Author information
                http://orcid.org/0000-0002-3025-0882
                Article
                Publisher ID: CCR31073
                DOI: 10.1002/ccr3.1073
                PMC ID: 5582238
                PubMed ID: 28878914
                SO-VID: aab24ef3-2612-4592-b807-aaa9de6466ee
                Copyright © © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 27 July 2016
                Date revision received : 08 March 2017
                Date accepted : 07 June 2017
                Page count
                Figures: 5, Tables: 0, Pages: 7, Words: 3944
                Funding
                Funded by: Wellcome Trust Strategic Award
                Award ID: 098439/Z/12/Z
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                component-id ccr31073
                cover-date September 2017
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:5.1.9 mode:remove_FC converted:04.09.2017

                Keywords: de novo variant,krt13,mucosal neoplasia,white sponge nevus
                Data availability:
                Keywords: de novo variant, krt13, mucosal neoplasia, white sponge nevus

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