Constitutional mutation of keratin 13 gene in familial white sponge nevus.
OBJECTIVE
We sought to investigate a novel mutation in the keratin genes assumed to be responsible for a familial case of oral white sponge nevus.


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.


CONCLUSIONS
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.
Kobe University Graduate School of Medicine, Department of Oral and Maxillofacial Surgery, Kobe, Japan.
Yasuyuki
Y
Shibuya
Jianming
J
Zhang
Satoshi
S
Yokoo
Masahiro
M
Umeda
Takahide
T
Komori
D000293:Adolescent; D000328:Adult; D003062:Codon / Q000235:genetics; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007633:Keratins / Q000145:classification / Q000235:genetics*; D008297:Male; D009059:Mouth Diseases / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D013941:Thymine
D003062:Codon; D007633:Keratins; D003596:Cytosine; D013941:Thymine