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Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update

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Novel 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 Hart

Source :

Journal of dentistry for children (Chicago, Ill.) [ 1551-8949 ] ; 2010.

RBID : PMC:4617240

Abstract

Purpose

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder that involves palmoplantar keratosis (PK) and severe aggressive periodontitis. Cathepsin C (CTSC) 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.

Methods

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 CTSC gene were amplified and sequenced.

Results

The patient had a PLS phenotype, which included PK and early-onset severe periodontitis. Sequence analysis showed a novel CTSC mutation (c.267–268del) present in the homozygous state.

Conclusion

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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617240

PubMed: 20359428
PubMed Central: 4617240

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Le 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>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">101180951</journal-id>
<journal-id journal-id-type="pubmed-jr-id">30381</journal-id>
<journal-id journal-id-type="nlm-ta">J Dent Child (Chic)</journal-id>
<journal-id journal-id-type="iso-abbrev">J Dent Child (Chic)</journal-id>
<journal-title-group><journal-title>Journal of dentistry for children (Chicago, Ill.)</journal-title>
</journal-title-group>
<issn pub-type="ppub">1551-8949</issn>
<issn pub-type="epub">1935-5068</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">20359428</article-id>
<article-id pub-id-type="pmc">4617240</article-id>
<article-id pub-id-type="manuscript">NIHMS647800</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Pallos</surname>
<given-names>Debora</given-names>
</name>
<degrees>DDS, MS, PhD</degrees>
<role>assistant professor</role>
<aff id="A1">Department of Periodontics, University of Taubaté, São Paulo, Brazil</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Acevedo</surname>
<given-names>Ana Carolina</given-names>
</name>
<degrees>DDS, MS, PhD</degrees>
<role>assistant professor</role>
<aff id="A2">Department of Dentistry, School of Health Science, University of Brazilia – Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasília, Brazil</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Mestrinho</surname>
<given-names>Heliana Dantas</given-names>
</name>
<degrees>DDS, MS, PhD</degrees>
<role>assistant professor</role>
<aff id="A3">Department of Dentistry, School of Health Science, University of Brazilia – Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasília, Brazil</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Cordeiro</surname>
<given-names>Ilia</given-names>
</name>
<degrees>DDS</degrees>
<role>resident</role>
<aff id="A4">Department of Dentistry, School of Health Science, University of Brazilia – Oral Care Center for Inherited Diseases, University Hospital of Brasilia, Brasília, Brazil</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Hart</surname>
<given-names>Thomas C.</given-names>
</name>
<degrees>DDS, PhD</degrees>
<role>senior investigator</role>
<aff id="A5">Human Craniofacial Genetics Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Md</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Hart</surname>
<given-names>P. Suzanne</given-names>
</name>
<degrees>PhD</degrees>
<role>associate investigator</role>
<aff id="A6">Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md</aff>
</contrib>
</contrib-group>
<author-notes><corresp id="FN1">Correspond with Dr. Pallos at <email>dpallos@netpoint.com.br</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>9</day>
<month>12</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="ppub"><season>Jan-Apr</season>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>23</day>
<month>10</month>
<year>2015</year>
</pub-date>
<volume>77</volume>
<issue>1</issue>
<fpage>36</fpage>
<lpage>41</lpage>
<abstract><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>
</abstract>
<kwd-group><kwd>Cathepsin C</kwd>
<kwd>Papillon-Lefèvre Syndrome</kwd>
<kwd>periodontitis</kwd>
<kwd>hyperkeratosis</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update

Novel Cathepsin C Mutation in a Brazilian Family with Papillon-Lefèvre Syndrome: Case Report and Mutation Update

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Abstract

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