[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Identifieur interne : 000D07 ( PubMed/Corpus ); 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.
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
Links to Exploration step
pubmed:25509509Le document en format XML
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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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25509509</PMID><DateCompleted><Year>2015</Year><Month>01</Month><Day>15</Day></DateCompleted><DateRevised><Year>2014</Year><Month>12</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0015-5314</ISSN><JournalIssue CitedMedium="Print"><Volume>107</Volume><Issue>3</Issue><PubDate><Year>2014</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Fogorvosi szemle</Title><ISOAbbreviation>Fogorv Sz</ISOAbbreviation></Journal><ArticleTitle>[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].</ArticleTitle><Pagination><MedlinePgn>87-92</MedlinePgn></Pagination><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></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Vályi</LastName><ForeName>Péter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Farkas</LastName><ForeName>Katalin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Tripolszki</LastName><ForeName>Kornélia</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Sulák</LastName><ForeName>Adrienn</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Széll</LastName><ForeName>Márta</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Nagy</LastName><ForeName>Nikoletta</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Nagy</LastName><ForeName>Katalin</ForeName><Initials>K</Initials></Author></AuthorList><Language>hun</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><VernacularTitle>Rekurrens európai misszensz mutáció egy magyar Papillon-Lefèvre szindrómában szenvedő családban.</VernacularTitle></Article><MedlineJournalInfo><Country>Hungary</Country><MedlineTA>Fogorv Sz</MedlineTA><NlmUniqueID>0374613</NlmUniqueID><ISSNLinking>0015-5314</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.4.14.1</RegistryNumber><NameOfSubstance UI="D020789">Cathepsin C</NameOfSubstance></Chemical></ChemicalList><CitationSubset>D</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010520" MajorTopicYN="N">Aggressive Periodontitis</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000534" MajorTopicYN="N">rehabilitation</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020789" MajorTopicYN="N">Cathepsin C</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005060" MajorTopicYN="N" Type="Geographic">Europe</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006814" MajorTopicYN="N" Type="Geographic">Hungary</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009066" MajorTopicYN="N">Mouth, Edentulous</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000534" MajorTopicYN="Y">rehabilitation</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010214" MajorTopicYN="N">Papillon-Lefevre Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017422" MajorTopicYN="N">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>12</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>12</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>1</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25509509</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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