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Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus

Artikel i vetenskaplig tidskrift
Författare Maria Westin
Elham Rekabdar
L. Blomstrand
P. Klintberg
Mats Jontell
Jairo Robledo-Sierra
Publicerad i Journal of Oral Pathology & Medicine
Volym 47
Nummer/häfte 2
Sidor 152-157
ISSN 0904-2512
Publiceringsår 2018
Publicerad vid Institutionen för odontologi
Core Facilities, Genomics
Sidor 152-157
Språk en
Länkar dx.doi.org/10.1111/jop.12652
Ämnesord keratin-13, keratin-4, mutation, white sponge nevus, intermediate-filaments, missense mutation, disease, family, 1a, k4, Dentistry, Oral Surgery & Medicine, Pathology, lean whi, 1995, current opinion in cell biology, v7, p118, einert pm, 1993, journal of investigative dermatology, v100, p729, ginnis jp, 1975, oral surgery oral medicine oral pathology oral radiology and, schke d, 1990, american journal of human genetics, v46, p548, einert pm, 1993, journal of molecular biology, v230, p436
Ämneskategorier Odontologi

Sammanfattning

BackgroundWhite sponge nevus is a rare autosomal dominant disorder that affects the non-keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa-specific keratin-4 and keratin-13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin-4 and keratin-13 in two Swedish families with white sponge nevus. MethodsThe diagnosis of white sponge nevus was based on disease history, clinical characteristics of the lesions and, in the majority of the cases, histopathological examination. Samples were collected from the affected buccal mucosa using buccal swabs. DNA was subsequently extracted and amplified using touchdown-PCR. The keratin-4 and keratin-13 genes were sequenced, and a genetic analysis was performed. ResultsA novel heterozygous missense mutation was identified in exon 1A of the keratin-4 gene in Family 2. In addition, previously reported heterozygous missense mutations were identified in the keratin-4 (E449K, A72V, Q156R, R208H) and keratin-13 (L115P) genes in both families. ConclusionWe describe a novel heterozygous missense mutation in the keratin-4 gene of a Swedish family with white sponge nevus. Our results support the notion that mutations in keratin-4 and keratin-13 are the underlying cause of white sponge nevus.

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