[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Identifieur interne : 000D07 ( PubMed/Curation ); précédent : 000D06; suivant : 000D08[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Auteurs : Péter Vályi ; Katalin Farkas ; Kornélia Tripolszki ; Adrienn Sulák ; Márta Széll ; Nikoletta Nagy ; Katalin NagySource :
- Fogorvosi szemle [ 0015-5314 ] ; 2014.
Descripteurs français
- KwdFr :
- Adulte, Analyse de séquence d'ADN, Bouche édentée (génétique), Bouche édentée (rééducation et réadaptation), Cathepsine C (génétique), Europe, Femelle, Hongrie, Humains, Maladie de Papillon-Lefèvre (diagnostic), Maladie de Papillon-Lefèvre (génétique), Mutation faux-sens, Parodontite agressive (génétique), Parodontite agressive (rééducation et réadaptation), Pedigree.
- MESH :
- diagnostic : Maladie de Papillon-Lefèvre.
- génétique : Bouche édentée, Cathepsine C, Maladie de Papillon-Lefèvre, Parodontite agressive.
- rééducation et réadaptation : Bouche édentée, Parodontite agressive.
- Adulte, Analyse de séquence d'ADN, Europe, Femelle, Hongrie, Humains, Mutation faux-sens, Pedigree.
- Wicri :
- geographic : Hongrie.
English descriptors
- KwdEn :
- Adult, Aggressive Periodontitis (genetics), Aggressive Periodontitis (rehabilitation), Cathepsin C (genetics), Europe, Female, Humans, Hungary, Mouth, Edentulous (genetics), Mouth, Edentulous (rehabilitation), Mutation, Missense, Papillon-Lefevre Disease (diagnosis), Papillon-Lefevre Disease (genetics), Pedigree, Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Cathepsin C.
- geographic : Europe, Hungary.
- diagnosis : Papillon-Lefevre Disease.
- genetics : Aggressive Periodontitis, Mouth, Edentulous, Papillon-Lefevre Disease.
- rehabilitation : Aggressive Periodontitis, Mouth, Edentulous.
- Adult, Female, Humans, Mutation, Missense, Pedigree, Sequence Analysis, DNA.
Abstract
Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child-bearing and family planning is now available.
PubMed: 25509509
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pubmed:25509509Le document en format XML
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<author><name sortKey="Tripolszki, Kornelia" sort="Tripolszki, Kornelia" uniqKey="Tripolszki K" first="Kornélia" last="Tripolszki">Kornélia Tripolszki</name>
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<front><div type="abstract" xml:lang="en">Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child-bearing and family planning is now available.</div>
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<Abstract><AbstractText>Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child-bearing and family planning is now available.</AbstractText>
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