Shibuya Yasuyuki, Zhang Jianming, Yokoo Satoshi, Umeda Masahiro, Komori Takahide
Kobe University Graduate School of Medicine, Department of Oral and Maxillofacial Surgery, Kobe, Japan.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003 Nov;96(5):561-5. doi: 10.1016/s1079-2104(03)00372-x.
We sought to investigate a novel mutation in the keratin genes assumed to be responsible for a familial case of oral white sponge nevus.
The affected family consisted of a 36-year-old woman, her 17-year-old daughter, and her 14-year-old son. Keratin 4 and 13 genes extracted from venous blood lymphocytes were amplified by using the polymerase chain reaction and directly sequenced.
Sequencing analysis of the 3 patients revealed the presence of a novel heterozygous T-to-C transition mutation in exon 1 of the keratin 13 gene, with no abnormalities detected in the keratin 4 gene.
We identified a novel heterozygous missense mutation at 332T>C in the keratin 13 gene believed to be related to the development of white sponge nevus.
