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


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.
Zhang
J M
JM
Department of Oral Pathology, Stomatology Hospital of Tianjin Medical University, Tianjin, China. zjming17@163.com
Yang
Z W
ZW
Chen
R Y
RY
Gao
P
P
Zhang
Y R
YR
Zhang
L F
LF
D000225:Adenine; D000328:Adult; D002681:China; D004847:Epithelial Cells / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006147:Guanine; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D053535:Keratin-13 / Q000235:genetics; D053527:Keratin-4 / Q000235:genetics*; D008239:Lysine / Q000235:genetics; D009059:Mouth Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D022661:RNA, Untranslated / Q000235:genetics
C507426:KRT13 protein, human; D053535:Keratin-13; D053527:Keratin-4; D022661:RNA, Untranslated; D018698:Glutamic Acid; D006147:Guanine; D000225:Adenine; D008239:Lysine