Abstract | 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.
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Authors | Yasuyuki Shibuya, Jianming Zhang, Satoshi Yokoo, Masahiro Umeda, Takahide Komori |
Journal | Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics
(Oral Surg Oral Med Oral Pathol Oral Radiol Endod)
Vol. 96
Issue 5
Pg. 561-5
(Nov 2003)
ISSN: 1079-2104 [Print] United States |
PMID | 14600690
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Codon
- Keratins
- Cytosine
- Thymine
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Topics |
- Adolescent
- Adult
- Codon
(genetics)
- Cytosine
- Exons
(genetics)
- Female
- Hamartoma
(genetics, pathology)
- Heterozygote
- Humans
- Keratins
(classification, genetics)
- Male
- Mouth Diseases
(genetics, pathology)
- Mutation, Missense
(genetics)
- Thymine
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