title: A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.
abstract: White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologically, the plaques show evidence of hyperproliferation, acanthosis and tonofilament aggregation. These types of pathogenic changes are characteristic of many of the epidermal keratin disorders. Keratins are expressed in pairs by epithelial cells in a tissue and cell specific manner. The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7). The tissue distribution and nature of the lesions in patients affected by WSN suggested that mutations in K4 and/or K13 might be responsible for this disorder. We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition.
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004848:Epithelium; D005260:Female; D005799:Genes, Dominant; D006222:Hamartoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007972:Leukoplakia, Oral / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009061:Mouth Mucosa / Q000002:abnormalities / Q000473:pathology*; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*; D014059:Tongue / Q000002:abnormalities / Q000473:pathology*
chemical_list: D018076:DNA, Complementary; D007633:Keratins