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Constitutional mutation of keratin 13 gene in familial white sponge nevus.

AbstractOBJECTIVE:
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.
AuthorsYasuyuki Shibuya, Jianming Zhang, Satoshi Yokoo, Masahiro Umeda, Takahide Komori
JournalOral 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
PMID14600690 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Codon
  • Keratins
  • Cytosine
  • Thymine
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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