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Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family.

AbstractOBJECTIVE:
We investigated white sponge nevus (WSN) in a Chinese family, and tried to find new mutation and demonstrated that this mutation is the causative mutation for WSN in this family and this condition affects a functionally important segment of the keratin 4 protein.
MATERIALS AND METHODS:
We studied the affected family with the 32-year-old female patient, her mother, her younger sister and her daughter. Pathologic examinations were performed. DNA was extracted from peripheral blood lymphocytes, K4 and K13 genes were amplified by polymerase chain reaction (PCR) and sequenced.
RESULTS:
Direct sequencing of PCR products revealed two new mutations in the keratin 4 gene, the heterozygous missense mutation 1829G-->A in exon 2B, and 2324A-->G in non-coding region. No any mutation was found in the keratin 13 gene.
CONCLUSIONS:
We found two new mutations in the keratin 4, which may be related with the development of WSN.
AuthorsJ M Zhang, Z W Yang, R Y Chen, P Gao, Y R Zhang, L F Zhang
JournalOral diseases (Oral Dis) Vol. 15 Issue 1 Pg. 100-5 (Jan 2009) ISSN: 1601-0825 [Electronic] Denmark
PMID18992023 (Publication Type: Case Reports, Journal Article)
Chemical References
  • KRT13 protein, human
  • Keratin-13
  • Keratin-4
  • RNA, Untranslated
  • Glutamic Acid
  • Guanine
  • Adenine
  • Lysine
Topics
  • Adenine
  • Adult
  • China
  • Epithelial Cells (pathology)
  • Exons (genetics)
  • Female
  • Glutamic Acid (genetics)
  • Guanine
  • Hamartoma (genetics, pathology)
  • Humans
  • Keratin-13 (genetics)
  • Keratin-4 (genetics)
  • Lysine (genetics)
  • Mouth Diseases (genetics, pathology)
  • Mutation (genetics)
  • Mutation, Missense (genetics)
  • Pedigree
  • RNA, Untranslated (genetics)

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