Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update
Identifieur interne : 002D38 ( Ncbi/Curation ); précédent : 002D37; suivant : 002D39Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update
Auteurs : Debora Pallos ; Ana Carolina Acevedo ; Heliana Dantas Mestrinho ; Ilia Cordeiro ; Thomas C. Hart ; P. Suzanne HartSource :
- Journal of dentistry for children (Chicago, Ill.) [ 1551-8949 ] ; 2010.
Abstract
Papillon-Lefèvre syndrome (
A 4-year-old boy presented with aggressive periodontitis, recession, missing teeth, and hyperkeratosis of the palms of hands and soles. Peripheral blood samples were obtained from family members for genomic DNA isolation. The coding region and exon/intron boundaries of the
The patient had a PLS phenotype, which included PK and early-onset severe periodontitis. Sequence analysis showed a novel
This report described a novel mutation in a family with Brazilian Papillon-Lefèvre syndrome and presented a review of all cathepsin C (65) mutations reported to date.
Url:
PubMed: 20359428
PubMed Central: 4617240
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PMC:4617240Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update</title>
<author><name sortKey="Pallos, Debora" sort="Pallos, Debora" uniqKey="Pallos D" first="Debora" last="Pallos">Debora Pallos</name>
</author>
<author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name>
</author>
<author><name sortKey="Mestrinho, Heliana Dantas" sort="Mestrinho, Heliana Dantas" uniqKey="Mestrinho H" first="Heliana Dantas" last="Mestrinho">Heliana Dantas Mestrinho</name>
</author>
<author><name sortKey="Cordeiro, Ilia" sort="Cordeiro, Ilia" uniqKey="Cordeiro I" first="Ilia" last="Cordeiro">Ilia Cordeiro</name>
</author>
<author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name>
</author>
<author><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update</title>
<author><name sortKey="Pallos, Debora" sort="Pallos, Debora" uniqKey="Pallos D" first="Debora" last="Pallos">Debora Pallos</name>
</author>
<author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name>
</author>
<author><name sortKey="Mestrinho, Heliana Dantas" sort="Mestrinho, Heliana Dantas" uniqKey="Mestrinho H" first="Heliana Dantas" last="Mestrinho">Heliana Dantas Mestrinho</name>
</author>
<author><name sortKey="Cordeiro, Ilia" sort="Cordeiro, Ilia" uniqKey="Cordeiro I" first="Ilia" last="Cordeiro">Ilia Cordeiro</name>
</author>
<author><name sortKey="Hart, Thomas C" sort="Hart, Thomas C" uniqKey="Hart T" first="Thomas C." last="Hart">Thomas C. Hart</name>
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<author><name sortKey="Hart, P Suzanne" sort="Hart, P Suzanne" uniqKey="Hart P" first="P. Suzanne" last="Hart">P. Suzanne Hart</name>
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<series><title level="j">Journal of dentistry for children (Chicago, Ill.)</title>
<idno type="ISSN">1551-8949</idno>
<idno type="eISSN">1935-5068</idno>
<imprint><date when="2010">2010</date>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose</title>
<p id="P1">Papillon-Lefèvre syndrome (<bold>PLS</bold>
) is a rare autosomal recessive disorder that involves palmoplantar keratosis (<bold>PK</bold>
) and severe aggressive periodontitis. Cathepsin C (<italic>CTSC</italic>
) gene mutations are etiologic for PLS, with more than 60 different mutations reported in different ethnic groups worldwide. The purpose of this study was to report a novel cathepsin C mutation in a Brazilian patient.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">A 4-year-old boy presented with aggressive periodontitis, recession, missing teeth, and hyperkeratosis of the palms of hands and soles. Peripheral blood samples were obtained from family members for genomic DNA isolation. The coding region and exon/intron boundaries of the <italic>CTSC</italic>
gene were amplified and sequenced.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">The patient had a PLS phenotype, which included PK and early-onset severe periodontitis. Sequence analysis showed a novel <italic>CTSC</italic>
mutation (c.267–268del) present in the homozygous state.</p>
</sec>
<sec id="S4"><title>Conclusion</title>
<p id="P4">This report described a novel mutation in a family with Brazilian Papillon-Lefèvre syndrome and presented a review of all cathepsin C (65) mutations reported to date.</p>
</sec>
</div>
</front>
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