Change search
ReferencesLink to record
Permanent link

Direct link
Phenotypic Variation and Allelic Heterogeneity in Young Patients with Papillon-Lefèvre Syndrome.
Show others and affiliations
2006 (English)In: Acta Dermato-Venereologica, Vol. 8, 3-7 p.Article in journal (Refereed) Published
Abstract [en]

Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressive periodontitis. The aim of the study was to identify underlying cathepsin C mutations in 39 subjects with Papillon-Lefèvre syndrome and to explore any phenotypic associations. Genotyping and mutation analyses were performed using standard molecular techniques, and dermatological and oral characteristics were assessed with a semiquantitative clinical score. Three genotypes were present at microsatellite marker D11S1780 and two underlying mutations were identified. The most common genotype (183/183) was associated with an 815G → C mutation in exon 6 resulting in an arginine to proline change at amino acid 272 (R272P). Patients with the 173/173 genotype revealed an exon 7 G300D mutation resulting in a glycine to aspartic acid change at amino acid 300. The mutation in a family with 189/189 genotype remained unknown. A significant difference in hyperkeratosis of the feet was found between the patients with mutations G300D and R272P (p <0.05), but not regarding hands or periodontal condition. Young girls displayed significantly less palmoplantar hyperkeratosis ( p <0.05) than young boys. In conclusion, considerable phenotypic heterogeneity was observed within the two cardinal mutations and in the 189/189 genotype.

Place, publisher, year, edition, pages
2006. Vol. 8, 3-7 p.
Keyword [en]
National Category
Dentistry Dentistry
URN: urn:nbn:se:umu:diva-12459OAI: diva2:152130
Available from: 2006-09-20 Created: 2006-09-20 Last updated: 2011-01-11Bibliographically approved

Open Access in DiVA

No full text

By organisation
Pediatric Dentistry

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Total: 26 hits
ReferencesLink to record
Permanent link

Direct link