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A novel mutation in the keratin 4 gene causing white sponge naevus
1Department of Dermatology, National Cheng-Kung University Hospital, 138 Sheng-Li Road, Tainan, Taiwan.
The British Journal of Dermatology
|June 28, 2003
Summary
White sponge naevus (WSN) is a rare genetic disorder affecting oral mucosa. A novel KRT4 gene mutation was identified in a Taiwanese patient, potentially disrupting keratin filament stability.
Area of Science:
- Genetics
- Dermatology
- Oral Medicine
Background:
- White sponge naevus (WSN) is a rare autosomal dominant disorder.
- It affects stratified squamous epithelia, commonly the buccal mucosa.
- WSN can be misdiagnosed due to its appearance as white oral lesions.
Observation:
- A case of WSN in a young Taiwanese man is presented.
- The patient exhibited diffuse whitish plaques on the buccal mucosa, gingiva, and tongue.
- Pathological examination revealed epithelial thickening and vacuolization.
Findings:
- Mutation analysis identified a heterozygous missense mutation (1345G-->A) in the KRT4 gene.
- This mutation predicts an amino acid change (E449K) in the K4 polypeptide.
- This is the first reported mutation analysis of WSN in a Taiwanese patient.
Implications:
- The novel KRT4 mutation may disrupt keratin filament stability.
- Understanding this mutation advances knowledge of WSN pathogenesis.
- This finding contributes to the genetic basis of epithelial disorders.