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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 : 002D39

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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PMC:4617240

Le document en format XML

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<author><name sortKey="Pallos, Debora" sort="Pallos, Debora" uniqKey="Pallos D" first="Debora" last="Pallos">Debora Pallos</name>
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<author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name>
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<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>
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<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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<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>
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<author><name sortKey="Acevedo, Ana Carolina" sort="Acevedo, Ana Carolina" uniqKey="Acevedo A" first="Ana Carolina" last="Acevedo">Ana Carolina Acevedo</name>
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<author><name sortKey="Mestrinho, Heliana Dantas" sort="Mestrinho, Heliana Dantas" uniqKey="Mestrinho H" first="Heliana Dantas" last="Mestrinho">Heliana Dantas Mestrinho</name>
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<author><name sortKey="Cordeiro, Ilia" sort="Cordeiro, Ilia" uniqKey="Cordeiro I" first="Ilia" last="Cordeiro">Ilia Cordeiro</name>
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<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>
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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>
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</front>
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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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