A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus
| Autor: | Eleonora Candi, Alessandro Terrinoni, Cinzia Mazzanti, Tonimaso Gobello, Sergio Oddi, Diana Bella Camaione, Gerry Melino, Giovanna Zambruno, Richard A. Knight |
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| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Adult
Pathology medicine.medical_specialty K13 K4 Keratin White Sponge Nevus Glutamine Hamartoma DNA Mutational Analysis Dermatology Keratin disease Biochemistry White sponge nevus medicine Humans Molecular Biology Family Health chemistry.chemical_classification biology Settore BIO/11 Mouth Mucosa Cell Biology Keratin 6A medicine.disease Pedigree Protein Structure Tertiary Keratin 5 Keratin 4 chemistry Keratin 7 DNA Transposable Elements biology.protein Keratin 8 Keratins Female Mouth Diseases |
| Popis: | White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and ‘‘spongy’’ plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have already been demonstrated to be responsible for WSN; the identification of new keratin mutations in a stratified squamous epithelia closely related to epidermis is of relevance for the understanding of the biochemistry of intermediate filaments, and for genotype phenotype correlations. In this study we investigated a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the helix initiation motif of the 1A alpha helical domain of K4. We report this new K4 gene mutation and describe an amino acid insertion, in the 1A domain, responsible for a keratin disease. |
| Databáze: | OpenAIRE |
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