Alternative titles; symbols
HGNC Approved Gene Symbol: KRT13
Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,500,981-41,505,612 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 17q21.2 | White sponge nevus 2 | 615785 | Autosomal dominant | 3 |
Keratin intermediate filaments (KIFs) are assembled from heterodimeric subunits composed of a type I and a type II protein. Keratin-13 (KRT13) is a member of the type I (acidic) subfamily of genes characteristic of the internal stratified epithelia (Romano et al., 1991).
By PCR amplification with cytokeratin 13-specific DNA antimers of a human-hamster somatic cell hybrid DNA panel, Romano et al. (1991) mapped the KRT13 gene to chromosome 17. By means of in situ hybridization, they determined the subchromosomal localization to be 17q12-q22. They further analyzed this region by pulsed field gel electrophoresis and demonstrated that the KRT13 gene is in the same large DNA fragment as the KRT10 (148080) and KRT15 (148030) genes. Further experiments performed with conventional agarose gel electrophoresis showed that the KRT10 and KRT13 genes are located in the same 14-kb fragment. A correlation of assignments of the 3 genes makes 17q21-q22 the likely location of the cluster. Romano et al. (1992) gave the location as 17q12-q21.2.
Ceratto et al. (1997) isolated and analyzed a YAC clone that mapped to 17q12-q21 by fluorescence in situ hybridization. By Southern analysis and pulsed field gel electrophoresis they concluded that KRT13, KRT14 (148066), KRT15, KRT16, and the linked type I genes KRT17 (148069) and KRT19 (148020), are contained in less than 150 kb of genomic DNA.
In affected members of a multigenerational Italian family segregating white sponge nevus-2 (WSN2; 615785), Richard et al. (1995) identified heterozygosity for a missense mutation in the KRT13 gene (148065.0001).
In a Japanese mother and 2 children with WSN2, who were negative for mutation in the KRT4 gene (123940), Shibuya et al. (2003) identified heterozygosity for a missense mutation in the KRT13 gene (L111P; 148065.0002).
In a multigenerational Italian family with white sponge nevus-2 (WSN2; 615785), Richard et al. (1995) demonstrated a T-to-C transition changing codon 15 of the KRT13 gene from CTG (leu) to CCG (pro) (L15P). The mutation was in the 1A subdomain of keratin 13. Substitution of C for T created a unique MspI recognition site that resulted in cleavage of amplified DNA on MspI digestion. Richard et al. (1995) noted that mutations in the precise corresponding residue have been described in keratin-9 (L15S; 607606.0008) in epidermolytic palmoplantar hyperkeratosis by Rothnagel et al. (1995), in keratin-10 (L15S; 148080.0002) in epidermolytic hyperkeratosis, and in keratin-16 (L15P; 148067.0001) in pachyonychia congenita.
Richard et al. (1995) numbered this mutation starting with the first residue in the 1A domain of KRT13. This mutation is also known as LEU119PRO.
In a Japanese mother and 2 children with white sponge nevus-2 (WSN2; 615785), Shibuya et al. (2003) identified heterozygosity for a 332T-C transition in exon 1 of the KRT13 gene, resulting in a leu111-to-pro (L111P) substitution.
Ceratto, N., Dobkin, C., Carter, M., Jenkins, E., Yao, X.-L., Cassiman, J.-J., Aly, M. S., Bosco, P., Leube, R., Langbein, L., Feo, S., Romano, V. Human type I cytokeratin genes are a compact cluster. Cytogenet. Cell Genet. 77: 169-174, 1997. [PubMed: 9284906] [Full Text: https://doi.org/10.1159/000134566]
Richard, G., De Laurenzi, V., Didona, B., Bale, S. J., Compton, J. G. Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nature Genet. 11: 453-455, 1995. [PubMed: 7493031] [Full Text: https://doi.org/10.1038/ng1295-453]
Romano, V., Bosco, P., Raimondi, E., Feo, S., Leube, R., Franke, W., Ceratto, N. Chromosomal mapping and physical linkage analysis of human acidic cytokeratin genes.(Abstract) Cytogenet. Cell Genet. 58: 2009-2010, 1991.
Romano, V., Raimondi, E., Bosco, P., Feo, S., Di Pietro, C., Leube, R. E., Troyanovsky, S. M., Ceratto, N. Chromosomal mapping of human cytokeratin 13 gene (KRT13). Genomics 14: 495-497, 1992. [PubMed: 1385306] [Full Text: https://doi.org/10.1016/s0888-7543(05)80250-2]
Rothnagel, J. A., Wojcik, S., Liefer, K. M., Dominey, A. M., Huber, M., Hohl, D., Roop, D. R. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. J. Invest. Derm. 104: 430-433, 1995. [PubMed: 7532199] [Full Text: https://doi.org/10.1111/1523-1747.ep12666018]
Shibuya, Y., Zhang, J., Yokoo, S., Umeda, M., Komori, T. Constitutional mutation of keratin 13 gene in familial white sponge nevus. Oral Surg. Oral Med. Oral Path. Oral Radiol. Endod. 96: 561-565, 2003. [PubMed: 14600690] [Full Text: https://doi.org/10.1016/s1079-2104(03)00372-x]