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Phenotypic variation and allelic heterogeneity in young patients with papillon-lefevre syndrome

ULLRRO, Christer ; EL-SAMADI, Safia ; BOUMAH, Christine ; AL-YOUSEF, Nujoud ; WAKIL, Salma ; TWETMAN, Svante ; ALFADLEY, Abdullah ; THESTRUP-PEDERSEN, Kristian ; MEYER, Brian

Acta dermato-venereologica, 2006-01, Vol.86 (1), p.3-7 [Periódico revisado por pares]

Uppsala: Acta dermato-venereologica

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Título:
Phenotypic variation and allelic heterogeneity in young patients with papillon-lefevre syndrome
Autor: ULLRRO, Christer ; EL-SAMADI, Safia ; BOUMAH, Christine ; AL-YOUSEF, Nujoud ; WAKIL, Salma ; TWETMAN, Svante ; ALFADLEY, Abdullah ; THESTRUP-PEDERSEN, Kristian ; MEYER, Brian
Assuntos: Adolescent ; Adult ; Amino Acid Substitution ; Biological and medical sciences ; Cathepsin C - genetics ; Child ; Child, Preschool ; Cohort Studies ; Dermatology ; Dyskeratosis ; Female ; Genetic Heterogeneity ; Genetic Variation ; Genotype ; Haplotypes ; Humans ; Male ; Medical sciences ; Microsatellite Repeats ; Mutation ; Papillon-Lefevre Disease - genetics ; Phenotype ; Sequence Analysis, DNA ; Severity of Illness Index ; Sex Factors
É parte de: Acta dermato-venereologica, 2006-01, Vol.86 (1), p.3-7
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: 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.
Editor: Uppsala: Acta dermato-venereologica
Idioma: Inglês

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Phenotypic variation and allelic heterogeneity in young patients with papillon-lefevre syndrome

ULLRRO, Christer ; EL-SAMADI, Safia ; BOUMAH, Christine ; AL-YOUSEF, Nujoud ; WAKIL, Salma ; TWETMAN, Svante ; ALFADLEY, Abdullah ; THESTRUP-PEDERSEN, Kristian ; MEYER, Brian

Uppsala: Acta dermato-venereologica

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