Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Oral Dis. 2009 Jan;15(1):100-5. doi: 10.1111/j.1601-0825.2008.01498.x. Epub 2008 Oct 25.

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

Author information

  • 1Department of Oral Pathology, Stomatology Hospital of Tianjin Medical University, Tianjin, China. zjming17@163.com

Abstract

OBJECTIVE:

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.

PMID:
18992023
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Blackwell Publishing
    Loading ...
    Write to the Help Desk