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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia</title><author><name sortKey="Lim, Sing Hui" sort="Lim, Sing Hui" uniqKey="Lim S" first="Sing-Hui" last="Lim">Sing-Hui Lim</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="St Germain, Elizabeth" sort="St Germain, Elizabeth" uniqKey="St Germain E" first="Elizabeth" last="St. Germain">Elizabeth St. Germain</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="Tran Viet, Khanh Nhat" sort="Tran Viet, Khanh Nhat" uniqKey="Tran Viet K" first="Khanh-Nhat" last="Tran-Viet">Khanh-Nhat Tran-Viet</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="Staffieri, Sandra" sort="Staffieri, Sandra" uniqKey="Staffieri S" first="Sandra" last="Staffieri">Sandra Staffieri</name><affiliation><nlm:aff id="A2">Clinical Genetics Unit, Centre for Eye Research Australia, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Marino, Meghan" sort="Marino, Meghan" uniqKey="Marino M" first="Meghan" last="Marino">Meghan Marino</name><affiliation><nlm:aff id="A3">Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</nlm:aff></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation><nlm:aff id="A4">Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Nading, Erica B" sort="Nading, Erica B" uniqKey="Nading E" first="Erica B." last="Nading">Erica B. Nading</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="Crowe, Sue" sort="Crowe, Sue" uniqKey="Crowe S" first="Sue" last="Crowe">Sue Crowe</name><affiliation><nlm:aff id="A3">Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</nlm:aff></affiliation></author><author><name sortKey="Gole, Glen" sort="Gole, Glen" uniqKey="Gole G" first="Glen" last="Gole">Glen Gole</name><affiliation><nlm:aff id="A5">Department of Ophthalmology, Royal Children's Hospital, Brisbane, Qld, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A6">The University of Queensland, Discipline of Paediatrics & Child Health, Brisbane, Qld, Australia</nlm:aff></affiliation></author><author><name sortKey="Perdomo Trujillo, Yaumara" sort="Perdomo Trujillo, Yaumara" uniqKey="Perdomo Trujillo Y" first="Yaumara" last="Perdomo-Trujillo">Yaumara Perdomo-Trujillo</name><affiliation><nlm:aff id="A4">Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Haybittel, Michael" sort="Haybittel, Michael" uniqKey="Haybittel M" first="Michael" last="Haybittel">Michael Haybittel</name><affiliation><nlm:aff id="A7">Department of Surgery, University of Tasmania, Tasmania, Australia</nlm:aff></affiliation></author><author><name sortKey="Elder, James" sort="Elder, James" uniqKey="Elder J" first="James" last="Elder">James Elder</name><affiliation><nlm:aff id="A8">Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Pelletier, Valerie" sort="Pelletier, Valerie" uniqKey="Pelletier V" first="Valérie" last="Pelletier">Valérie Pelletier</name><affiliation><nlm:aff id="A4">Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Traboulsi, Elias" sort="Traboulsi, Elias" uniqKey="Traboulsi E" first="Elias" last="Traboulsi">Elias Traboulsi</name><affiliation><nlm:aff id="A3">Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH</nlm:aff></affiliation></author><author><name sortKey="Mackey, David" sort="Mackey, David" uniqKey="Mackey D" first="David" last="Mackey">David Mackey</name><affiliation><nlm:aff id="A11">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia</nlm:aff></affiliation></author><author><name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation><affiliation><nlm:aff id="A12">The Department of Ophthalmology, Duke University Eye Center, Durham, NC</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23802135</idno><idno type="pmc">4159081</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159081</idno><idno type="RBID">PMC:4159081</idno><idno type="doi">10.3109/13816810.2012.752017</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002167</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002167</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia</title><author><name sortKey="Lim, Sing Hui" sort="Lim, Sing Hui" uniqKey="Lim S" first="Sing-Hui" last="Lim">Sing-Hui Lim</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="St Germain, Elizabeth" sort="St Germain, Elizabeth" uniqKey="St Germain E" first="Elizabeth" last="St. Germain">Elizabeth St. Germain</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="Tran Viet, Khanh Nhat" sort="Tran Viet, Khanh Nhat" uniqKey="Tran Viet K" first="Khanh-Nhat" last="Tran-Viet">Khanh-Nhat Tran-Viet</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="Staffieri, Sandra" sort="Staffieri, Sandra" uniqKey="Staffieri S" first="Sandra" last="Staffieri">Sandra Staffieri</name><affiliation><nlm:aff id="A2">Clinical Genetics Unit, Centre for Eye Research Australia, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Marino, Meghan" sort="Marino, Meghan" uniqKey="Marino M" first="Meghan" last="Marino">Meghan Marino</name><affiliation><nlm:aff id="A3">Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</nlm:aff></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation><nlm:aff id="A4">Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Nading, Erica B" sort="Nading, Erica B" uniqKey="Nading E" first="Erica B." last="Nading">Erica B. Nading</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation></author><author><name sortKey="Crowe, Sue" sort="Crowe, Sue" uniqKey="Crowe S" first="Sue" last="Crowe">Sue Crowe</name><affiliation><nlm:aff id="A3">Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</nlm:aff></affiliation></author><author><name sortKey="Gole, Glen" sort="Gole, Glen" uniqKey="Gole G" first="Glen" last="Gole">Glen Gole</name><affiliation><nlm:aff id="A5">Department of Ophthalmology, Royal Children's Hospital, Brisbane, Qld, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A6">The University of Queensland, Discipline of Paediatrics & Child Health, Brisbane, Qld, Australia</nlm:aff></affiliation></author><author><name sortKey="Perdomo Trujillo, Yaumara" sort="Perdomo Trujillo, Yaumara" uniqKey="Perdomo Trujillo Y" first="Yaumara" last="Perdomo-Trujillo">Yaumara Perdomo-Trujillo</name><affiliation><nlm:aff id="A4">Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Haybittel, Michael" sort="Haybittel, Michael" uniqKey="Haybittel M" first="Michael" last="Haybittel">Michael Haybittel</name><affiliation><nlm:aff id="A7">Department of Surgery, University of Tasmania, Tasmania, Australia</nlm:aff></affiliation></author><author><name sortKey="Elder, James" sort="Elder, James" uniqKey="Elder J" first="James" last="Elder">James Elder</name><affiliation><nlm:aff id="A8">Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Pelletier, Valerie" sort="Pelletier, Valerie" uniqKey="Pelletier V" first="Valérie" last="Pelletier">Valérie Pelletier</name><affiliation><nlm:aff id="A4">Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Traboulsi, Elias" sort="Traboulsi, Elias" uniqKey="Traboulsi E" first="Elias" last="Traboulsi">Elias Traboulsi</name><affiliation><nlm:aff id="A3">Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH</nlm:aff></affiliation></author><author><name sortKey="Mackey, David" sort="Mackey, David" uniqKey="Mackey D" first="David" last="Mackey">David Mackey</name><affiliation><nlm:aff id="A11">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia</nlm:aff></affiliation></author><author><name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name><affiliation><nlm:aff id="A1">The Center for Human Genetics, Duke University Medical Center, Durham, NC</nlm:aff></affiliation><affiliation><nlm:aff id="A12">The Department of Ophthalmology, Duke University Eye Center, Durham, NC</nlm:aff></affiliation></author></analytic><series><title level="j">Ophthalmic genetics</title><idno type="ISSN">1381-6810</idno><idno type="eISSN">1744-5094</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose</title><p id="P1">The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in the ATOH7 gene using Sanger sequencing.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Sanger sequencing of the ATOH7 gene was performed on 34 affected individual DNA samples. Sequencing was also carried out in 3 unaffected family members to confirm segregation of identified single nucleotide variations.</p></sec><sec id="S3"><title>Results</title><p id="P3">Seven sequence variations were identified in ATOH7. No disease-causing sequence changes in the ATOH7 gene was discovered in the ONH patient samples.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.</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">9436057</journal-id><journal-id journal-id-type="pubmed-jr-id">8553</journal-id><journal-id journal-id-type="nlm-ta">Ophthalmic Genet</journal-id><journal-id journal-id-type="iso-abbrev">Ophthalmic Genet.</journal-id><journal-title-group><journal-title>Ophthalmic genetics</journal-title></journal-title-group><issn pub-type="ppub">1381-6810</issn><issn pub-type="epub">1744-5094</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23802135</article-id><article-id pub-id-type="pmc">4159081</article-id><article-id pub-id-type="doi">10.3109/13816810.2012.752017</article-id><article-id pub-id-type="manuscript">NIHMS622729</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lim</surname><given-names>Sing-Hui</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>St.Germain</surname><given-names>Elizabeth</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Tran-Viet</surname><given-names>Khanh-Nhat</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Staffieri</surname><given-names>Sandra</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Marino</surname><given-names>Meghan</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Dollfus</surname><given-names>Hélène</given-names><prefix>Pr</prefix></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Nading</surname><given-names>Erica B.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Crowe</surname><given-names>Sue</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Gole</surname><given-names>Glen</given-names></name><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Perdomo-Trujillo</surname><given-names>Yaumara</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Haybittel</surname><given-names>Michael</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Elder</surname><given-names>James</given-names></name><xref ref-type="aff" rid="A8">8</xref><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Pelletier</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Traboulsi</surname><given-names>Elias</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Mackey</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Young</surname><given-names>Terri L.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A12">12</xref></contrib></contrib-group><aff id="A1"><label>1</label>The Center for Human Genetics, Duke University Medical Center, Durham, NC</aff><aff id="A2"><label>2</label>Clinical Genetics Unit, Centre for Eye Research Australia, Melbourne, Australia</aff><aff id="A3"><label>3</label>Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH</aff><aff id="A4"><label>4</label>Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil Clinique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</aff><aff id="A5"><label>5</label>Department of Ophthalmology, Royal Children's Hospital, Brisbane, Qld, Australia</aff><aff id="A6"><label>6</label>The University of Queensland, Discipline of Paediatrics & Child Health, Brisbane, Qld, Australia</aff><aff id="A7"><label>7</label>Department of Surgery, University of Tasmania, Tasmania, Australia</aff><aff id="A8"><label>8</label>Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia</aff><aff id="A9"><label>9</label>Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia</aff><aff id="A10"><label>10</label>Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH</aff><aff id="A11"><label>11</label>Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia</aff><aff id="A12"><label>12</label>The Department of Ophthalmology, Duke University Eye Center, Durham, NC</aff><author-notes><corresp id="cor1">Correspondence: Terri L. Young, MD, MBA, Center for Human Genetics, Duke University, 905 S. LaSalle Street, Durham, NC 27710, <email>terri.young@duke.edu</email>, Request for reprints should be sent to the corresponding author</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>22</day><month>8</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>26</day><month>6</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>09</day><month>9</month><year>2014</year></pub-date><volume>35</volume><issue>1</issue><fpage>1</fpage><lpage>6</lpage><pmc-comment>elocation-id from pubmed: 10.3109/13816810.2012.752017</pmc-comment>
<abstract><sec id="S1"><title>Purpose</title><p id="P1">The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in the ATOH7 gene using Sanger sequencing.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Sanger sequencing of the ATOH7 gene was performed on 34 affected individual DNA samples. Sequencing was also carried out in 3 unaffected family members to confirm segregation of identified single nucleotide variations.</p></sec><sec id="S3"><title>Results</title><p id="P3">Seven sequence variations were identified in ATOH7. No disease-causing sequence changes in the ATOH7 gene was discovered in the ONH patient samples.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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