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Phenotypic Variatio...
Phenotypic Variation and Allelic Heterogeneity in Young Patients with Papillon-Lefèvre Syndrome.
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Ullbro, Christer (författare)
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El-Samadi, S (författare)
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Boumah, C (författare)
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visa fler...
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Al-Yousef, N (författare)
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Wakil, S (författare)
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- Twetman, Svante (författare)
- Umeå universitet,Pedodonti
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Alfadely, A (författare)
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Thestrup-Pedersen, K (författare)
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Meyer, B (författare)
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visa färre...
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(creator_code:org_t)
- 2006
- 2006
- Engelska.
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Ingår i: Acta Dermato-Venereologica. ; 8, s. 3-7
- Relaterad länk:
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https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Odontologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dentistry (hsv//eng)
Nyckelord
- Odontology
- ODONTOLOGY
- ODONTOLOGI
- Paedodontics
- Pedodonti
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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