[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Identifieur interne : 001558 ( Main/Exploration ); précédent : 001557; suivant : 001559[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
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000715
- to stream PubMed, to step Curation: 000715
- to stream PubMed, to step Checkpoint: 000715
- to stream Ncbi, to step Merge: 005713
- to stream Ncbi, to step Curation: 005713
- to stream Ncbi, to step Checkpoint: 005713
- to stream Main, to step Merge: 001561
- to stream Main, to step Curation: 001558
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].</title><author><name sortKey="Valyi, Peter" sort="Valyi, Peter" uniqKey="Valyi P" first="Péter" last="Vályi">Péter Vályi</name></author><author><name sortKey="Farkas, Katalin" sort="Farkas, Katalin" uniqKey="Farkas K" first="Katalin" last="Farkas">Katalin Farkas</name></author><author><name sortKey="Tripolszki, Kornelia" sort="Tripolszki, Kornelia" uniqKey="Tripolszki K" first="Kornélia" last="Tripolszki">Kornélia Tripolszki</name></author><author><name sortKey="Sulak, Adrienn" sort="Sulak, Adrienn" uniqKey="Sulak A" first="Adrienn" last="Sulák">Adrienn Sulák</name></author><author><name sortKey="Szell, Marta" sort="Szell, Marta" uniqKey="Szell M" first="Márta" last="Széll">Márta Széll</name></author><author><name sortKey="Nagy, Nikoletta" sort="Nagy, Nikoletta" uniqKey="Nagy N" first="Nikoletta" last="Nagy">Nikoletta Nagy</name></author><author><name sortKey="Nagy, Katalin" sort="Nagy, Katalin" uniqKey="Nagy K" first="Katalin" last="Nagy">Katalin Nagy</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25509509</idno><idno type="pmid">25509509</idno><idno type="wicri:Area/PubMed/Corpus">000715</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000715</idno><idno type="wicri:Area/PubMed/Curation">000715</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000715</idno><idno type="wicri:Area/PubMed/Checkpoint">000715</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000715</idno><idno type="wicri:Area/Ncbi/Merge">005713</idno><idno type="wicri:Area/Ncbi/Curation">005713</idno><idno type="wicri:Area/Ncbi/Checkpoint">005713</idno><idno type="wicri:doubleKey">0015-5314:2014:Valyi P:recurrent:european:missense</idno><idno type="wicri:Area/Main/Merge">001561</idno><idno type="wicri:Area/Main/Curation">001558</idno><idno type="wicri:Area/Main/Exploration">001558</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].</title><author><name sortKey="Valyi, Peter" sort="Valyi, Peter" uniqKey="Valyi P" first="Péter" last="Vályi">Péter Vályi</name></author><author><name sortKey="Farkas, Katalin" sort="Farkas, Katalin" uniqKey="Farkas K" first="Katalin" last="Farkas">Katalin Farkas</name></author><author><name sortKey="Tripolszki, Kornelia" sort="Tripolszki, Kornelia" uniqKey="Tripolszki K" first="Kornélia" last="Tripolszki">Kornélia Tripolszki</name></author><author><name sortKey="Sulak, Adrienn" sort="Sulak, Adrienn" uniqKey="Sulak A" first="Adrienn" last="Sulák">Adrienn Sulák</name></author><author><name sortKey="Szell, Marta" sort="Szell, Marta" uniqKey="Szell M" first="Márta" last="Széll">Márta Széll</name></author><author><name sortKey="Nagy, Nikoletta" sort="Nagy, Nikoletta" uniqKey="Nagy N" first="Nikoletta" last="Nagy">Nikoletta Nagy</name></author><author><name sortKey="Nagy, Katalin" sort="Nagy, Katalin" uniqKey="Nagy K" first="Katalin" last="Nagy">Katalin Nagy</name></author></analytic><series><title level="j">Fogorvosi szemle</title><idno type="ISSN">0015-5314</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aggressive Periodontitis (genetics)</term><term>Aggressive Periodontitis (rehabilitation)</term><term>Cathepsin C (genetics)</term><term>Europe</term><term>Female</term><term>Humans</term><term>Hungary</term><term>Mouth, Edentulous (genetics)</term><term>Mouth, Edentulous (rehabilitation)</term><term>Mutation, Missense</term><term>Papillon-Lefevre Disease (diagnosis)</term><term>Papillon-Lefevre Disease (genetics)</term><term>Pedigree</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Analyse de séquence d'ADN</term><term>Bouche édentée (génétique)</term><term>Bouche édentée (rééducation et réadaptation)</term><term>Cathepsine C (génétique)</term><term>Europe</term><term>Femelle</term><term>Hongrie</term><term>Humains</term><term>Maladie de Papillon-Lefèvre (diagnostic)</term><term>Maladie de Papillon-Lefèvre (génétique)</term><term>Mutation faux-sens</term><term>Parodontite agressive (génétique)</term><term>Parodontite agressive (rééducation et réadaptation)</term><term>Pedigree</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cathepsin C</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Europe</term><term>Hungary</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Papillon-Lefevre Disease</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Maladie de Papillon-Lefèvre</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Aggressive Periodontitis</term><term>Mouth, Edentulous</term><term>Papillon-Lefevre Disease</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Bouche édentée</term><term>Cathepsine C</term><term>Maladie de Papillon-Lefèvre</term><term>Parodontite agressive</term></keywords><keywords scheme="MESH" qualifier="rehabilitation" xml:lang="en"><term>Aggressive Periodontitis</term><term>Mouth, Edentulous</term></keywords><keywords scheme="MESH" qualifier="rééducation et réadaptation" xml:lang="fr"><term>Bouche édentée</term><term>Parodontite agressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Mutation, Missense</term><term>Pedigree</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Analyse de séquence d'ADN</term><term>Europe</term><term>Femelle</term><term>Hongrie</term><term>Humains</term><term>Mutation faux-sens</term><term>Pedigree</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Hongrie</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Farkas, Katalin" sort="Farkas, Katalin" uniqKey="Farkas K" first="Katalin" last="Farkas">Katalin Farkas</name><name sortKey="Nagy, Katalin" sort="Nagy, Katalin" uniqKey="Nagy K" first="Katalin" last="Nagy">Katalin Nagy</name><name sortKey="Nagy, Nikoletta" sort="Nagy, Nikoletta" uniqKey="Nagy N" first="Nikoletta" last="Nagy">Nikoletta Nagy</name><name sortKey="Sulak, Adrienn" sort="Sulak, Adrienn" uniqKey="Sulak A" first="Adrienn" last="Sulák">Adrienn Sulák</name><name sortKey="Szell, Marta" sort="Szell, Marta" uniqKey="Szell M" first="Márta" last="Széll">Márta Széll</name><name sortKey="Tripolszki, Kornelia" sort="Tripolszki, Kornelia" uniqKey="Tripolszki K" first="Kornélia" last="Tripolszki">Kornélia Tripolszki</name><name sortKey="Valyi, Peter" sort="Valyi, Peter" uniqKey="Valyi P" first="Péter" last="Vályi">Péter Vályi</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001558 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001558 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:25509509
|texte= [Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:25509509" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a EdenteV2
| This area was generated with Dilib version V0.6.32. |  |