Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family.
作者信息
Zhang J M, Yang Z W, Chen R Y, Gao P, Zhang Y R, Zhang L F
机构信息
Department of Oral Pathology, Stomatology Hospital of Tianjin Medical University, Tianjin, China.
出版信息
Oral Dis. 2009 Jan;15(1):100-5. doi: 10.1111/j.1601-0825.2008.01498.x. Epub 2008 Oct 25.
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.
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