OBJECTIVE: We sought to investigate a novel mutation in the keratin genes assumed to be responsible for a familial case of oral white sponge nevus. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
OBJECTIVE: We sought to investigate a novel mutation in the keratin genes assumed to be responsible for a familial case of oral white sponge nevus. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Authors: Stephanie B de Haseth; Egbert Bakker; Maarten H Vermeer; Hakima El Idrissi; Tjalling Bosse; Vincent T H B M Smit; Anna Terron-Kwiatkowski; W H Irwin McLean; Alexander A W Peters; Frederik J Hes Journal: Clin Case Rep Date: 2017-07-29