Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome
Identifieur interne : 000542 ( Pmc/Curation ); précédent : 000541; suivant : 000543Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome
Auteurs : Nalini Aswath [Inde] ; Bhuminathan Swamikannu [Inde] ; Sankar Narayanan Ramakrishnan [Inde] ; Rajendran Shanmugam [Inde] ; Jayakar Thomas [Inde] ; Arvind Ramanathan [Inde]Source :
- European Journal of Dentistry [ 1305-7456 ] ; 2014.
Abstract
In the present study, we have investigated the genetic status of
Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with
Sequencing analysis identified Ile453Val mutation within exon 7 of
The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.
Url:
DOI: 10.4103/1305-7456.126250
PubMed: 24966751
PubMed Central: 4054037
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of <italic>cathepsin C</italic> are associated with Haim-Munk syndrome</title><author><name sortKey="Aswath, Nalini" sort="Aswath, Nalini" uniqKey="Aswath N" first="Nalini" last="Aswath">Nalini Aswath</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Swamikannu, Bhuminathan" sort="Swamikannu, Bhuminathan" uniqKey="Swamikannu B" first="Bhuminathan" last="Swamikannu">Bhuminathan Swamikannu</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Ramakrishnan, Sankar Narayanan" sort="Ramakrishnan, Sankar Narayanan" uniqKey="Ramakrishnan S" first="Sankar Narayanan" last="Ramakrishnan">Sankar Narayanan Ramakrishnan</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Shanmugam, Rajendran" sort="Shanmugam, Rajendran" uniqKey="Shanmugam R" first="Rajendran" last="Shanmugam">Rajendran Shanmugam</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Thomas, Jayakar" sort="Thomas, Jayakar" uniqKey="Thomas J" first="Jayakar" last="Thomas">Jayakar Thomas</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Ramanathan, Arvind" sort="Ramanathan, Arvind" uniqKey="Ramanathan A" first="Arvind" last="Ramanathan">Arvind Ramanathan</name><affiliation wicri:level="1"><nlm:aff id="aff5">Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24966751</idno><idno type="pmc">4054037</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054037</idno><idno type="RBID">PMC:4054037</idno><idno type="doi">10.4103/1305-7456.126250</idno><date when="2014">2014</date><idno 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and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Swamikannu, Bhuminathan" sort="Swamikannu, Bhuminathan" uniqKey="Swamikannu B" first="Bhuminathan" last="Swamikannu">Bhuminathan Swamikannu</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Ramakrishnan, Sankar Narayanan" sort="Ramakrishnan, Sankar Narayanan" uniqKey="Ramakrishnan S" first="Sankar Narayanan" last="Ramakrishnan">Sankar Narayanan Ramakrishnan</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Shanmugam, Rajendran" sort="Shanmugam, Rajendran" uniqKey="Shanmugam R" first="Rajendran" last="Shanmugam">Rajendran Shanmugam</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Thomas, Jayakar" sort="Thomas, Jayakar" uniqKey="Thomas J" first="Jayakar" last="Thomas">Jayakar Thomas</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author><author><name sortKey="Ramanathan, Arvind" sort="Ramanathan, Arvind" uniqKey="Ramanathan A" first="Arvind" last="Ramanathan">Arvind Ramanathan</name><affiliation wicri:level="1"><nlm:aff id="aff5">Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu</wicri:regionArea></affiliation></author></analytic><series><title level="j">European Journal of Dentistry</title><idno type="ISSN">1305-7456</idno><idno type="eISSN">1305-7464</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="st1"><title>Objective:</title><p>In the present study, we have investigated the genetic status of <italic>CTSC</italic> gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community.</p></sec><sec id="st2"><title>Materials and Methods:</title><p>Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with <italic>CTSC</italic> exon specific primers and were analyzed by direct sequencing.</p></sec><sec id="st3"><title>Results:</title><p>Sequencing analysis identified Ile453Val mutation within exon 7 of <italic>CTSC</italic> gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition.</p></sec><sec id="st4"><title>Conclusion:</title><p>The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hart, Tc" uniqKey="Hart T">TC Hart</name></author><author><name sortKey="Hart, Ps" uniqKey="Hart P">PS Hart</name></author><author><name sortKey="Michalec, Md" uniqKey="Michalec M">MD Michalec</name></author><author><name sortKey="Zhang, Y" uniqKey="Zhang Y">Y Zhang</name></author><author><name sortKey="Firatli, E" uniqKey="Firatli E">E Firatli</name></author><author><name sortKey="Van Dyke, Te" uniqKey="Van Dyke T">TE Van Dyke</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pahwa, P" uniqKey="Pahwa P">P Pahwa</name></author><author><name sortKey="Lamba, Ak" uniqKey="Lamba A">AK Lamba</name></author><author><name sortKey="Faraz, F" uniqKey="Faraz F">F Faraz</name></author><author><name sortKey="Tandon, S" uniqKey="Tandon S">S Tandon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hacham Zadeh, S" uniqKey="Hacham Zadeh S">S Hacham-Zadeh</name></author><author><name sortKey="Schaap, T" uniqKey="Schaap T">T Schaap</name></author><author><name sortKey="Cohen, Mm" uniqKey="Cohen M">MM Cohen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stevens, Hp" uniqKey="Stevens H">HP Stevens</name></author><author><name sortKey="Kelsell, Dp" uniqKey="Kelsell D">DP Kelsell</name></author><author><name sortKey="Bryant, Sp" uniqKey="Bryant S">SP Bryant</name></author><author><name sortKey="Bishop, Dt" uniqKey="Bishop D">DT Bishop</name></author><author><name sortKey="Spurr, Nk" uniqKey="Spurr N">NK Spurr</name></author><author><name sortKey="Weissenbach, J" uniqKey="Weissenbach J">J Weissenbach</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Erciyas, K" uniqKey="Erciyas K">K Erciyas</name></author><author><name sortKey="Inaloz, S" uniqKey="Inaloz S">S Inaloz</name></author><author><name sortKey="Erciyas, Af" uniqKey="Erciyas A">AF Erciyas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Romero Quintana, Jg" uniqKey="Romero Quintana J">JG Romero-Quintana</name></author><author><name sortKey="Frias Castro, Lo" uniqKey="Frias Castro L">LO Frías-Castro</name></author><author><name sortKey="Arambula Meraz, E" uniqKey="Arambula Meraz E">E Arámbula-Meraz</name></author><author><name sortKey="Aguilar Medina, M" uniqKey="Aguilar Medina M">M Aguilar-Medina</name></author><author><name sortKey="Due As Arias, Je" uniqKey="Due As Arias J">JE Dueñas-Arias</name></author><author><name sortKey="Melchor Soto, Jd" uniqKey="Melchor Soto J">JD Melchor-Soto</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Janjua, Sa" uniqKey="Janjua S">SA Janjua</name></author><author><name sortKey="Iftikhar, N" uniqKey="Iftikhar N">N Iftikhar</name></author><author><name sortKey="Hussain, I" uniqKey="Hussain I">I Hussain</name></author><author><name sortKey="Khachemoune, A" uniqKey="Khachemoune A">A Khachemoune</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rai, R" uniqKey="Rai R">R Rai</name></author><author><name sortKey="Thiagarajan, S" uniqKey="Thiagarajan S">S Thiagarajan</name></author><author><name sortKey="Mohandas, S" uniqKey="Mohandas S">S Mohandas</name></author><author><name sortKey="Natarajan, K" uniqKey="Natarajan K">K Natarajan</name></author><author><name sortKey="Shanmuga, Sekar C" uniqKey="Shanmuga S">Sekar C Shanmuga</name></author><author><name sortKey="Ramalingam, S" uniqKey="Ramalingam S">S Ramalingam</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Conus, S" uniqKey="Conus S">S Conus</name></author><author><name sortKey="Simon, Hu" uniqKey="Simon H">HU Simon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nakagawa, Ty" uniqKey="Nakagawa T">TY Nakagawa</name></author><author><name sortKey="Rudensky, Ay" uniqKey="Rudensky A">AY Rudensky</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Reiser, J" uniqKey="Reiser J">J Reiser</name></author><author><name sortKey="Adair, B" uniqKey="Adair B">B Adair</name></author><author><name sortKey="Reinheckel, T" uniqKey="Reinheckel T">T Reinheckel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cury, Vf" uniqKey="Cury V">VF Cury</name></author><author><name sortKey="Gomez, Rs" uniqKey="Gomez R">RS Gomez</name></author><author><name sortKey="Costa, Je" uniqKey="Costa J">JE Costa</name></author><author><name sortKey="Friedman, E" uniqKey="Friedman E">E Friedman</name></author><author><name sortKey="Boson, W" uniqKey="Boson W">W Boson</name></author><author><name sortKey="De Marco, L" uniqKey="De Marco L">L De Marco</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Noack, B" uniqKey="Noack B">B Noack</name></author><author><name sortKey="Gorgens, H" uniqKey="Gorgens H">H Görgens</name></author><author><name sortKey="Hempel, U" uniqKey="Hempel U">U Hempel</name></author><author><name sortKey="Fangh Nel, J" uniqKey="Fangh Nel J">J Fanghänel</name></author><author><name sortKey="Hoffmann, T" uniqKey="Hoffmann T">T Hoffmann</name></author><author><name sortKey="Ziegler, A" uniqKey="Ziegler A">A Ziegler</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Dent</journal-id><journal-id journal-id-type="iso-abbrev">Eur J Dent</journal-id><journal-id journal-id-type="publisher-id">EJD</journal-id><journal-title-group><journal-title>European Journal of Dentistry</journal-title></journal-title-group><issn pub-type="ppub">1305-7456</issn><issn pub-type="epub">1305-7464</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24966751</article-id><article-id pub-id-type="pmc">4054037</article-id><article-id pub-id-type="publisher-id">EJD-8-79</article-id><article-id pub-id-type="doi">10.4103/1305-7456.126250</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Article</subject></subj-group></article-categories><title-group><article-title>Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of <italic>cathepsin C</italic> are associated with Haim-Munk syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Aswath</surname><given-names>Nalini</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Swamikannu</surname><given-names>Bhuminathan</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Ramakrishnan</surname><given-names>Sankar Narayanan</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Shanmugam</surname><given-names>Rajendran</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Thomas</surname><given-names>Jayakar</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Ramanathan</surname><given-names>Arvind</given-names></name><xref ref-type="aff" rid="aff5">5</xref><xref ref-type="corresp" rid="cor1"></xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</aff><aff id="aff2"><label>2</label>Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</aff><aff id="aff3"><label>3</label>Department of Medicine, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India</aff><aff id="aff4"><label>4</label>Department of Dermatology, Sree Balaji Medical College and Hospital, Bharath University, Chennai, Tamil Nadu, India</aff><aff id="aff5"><label>5</label>Human Genetics Laboratory, Central Research Facility, Sree Balaji Medical and Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India</aff><author-notes><corresp id="cor1"><bold>Correspondence:</bold> Dr. Arvind Ramanathan Email: <email xlink:href="drarvindram@yahoo.co.in">drarvindram@yahoo.co.in</email></corresp></author-notes><pub-date pub-type="ppub"><season>Jan-Mar</season><year>2014</year></pub-date><volume>8</volume><issue>1</issue><fpage>79</fpage><lpage>84</lpage><permissions><copyright-statement>Copyright: © European Journal of Dentistry</copyright-statement><copyright-year>2014</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><sec id="st1"><title>Objective:</title><p>In the present study, we have investigated the genetic status of <italic>CTSC</italic> gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community.</p></sec><sec id="st2"><title>Materials and Methods:</title><p>Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with <italic>CTSC</italic> exon specific primers and were analyzed by direct sequencing.</p></sec><sec id="st3"><title>Results:</title><p>Sequencing analysis identified Ile453Val mutation within exon 7 of <italic>CTSC</italic> gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition.</p></sec><sec id="st4"><title>Conclusion:</title><p>The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.</p></sec></abstract><kwd-group><kwd><italic>Cathepsin C</italic> mutation</kwd><kwd>Hain-Munk syndrome</kwd><kwd>Hain-Munk syndrome in India</kwd><kwd>single nucleotide polymorphism in Hain-Munk syndrome</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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