A novel locus for X-linked congenital cataract on Xq24
Identifieur interne : 002143 ( Pmc/Curation ); précédent : 002142; suivant : 002144A novel locus for X-linked congenital cataract on Xq24
Auteurs : Jamie E. Craig [Australie] ; Kathryn L. Friend [Australie] ; Jozef Gecz [Australie] ; Kate M. Rattray [Australie] ; Mark Troski [Australie] ; David A. Mackey [Australie] ; Kathryn P. Burdon [Australie]Source :
- Molecular Vision [ 1090-0535 ] ; 2008.
Abstract
This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.
A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.
A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals.
A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.
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PubMed: 18431456
PubMed Central: 2324122
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Craig</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Ophthalmology, Flinders University, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Ophthalmology, Flinders University, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. Friend</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, SA</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, SA</wicri:regionArea></affiliation></author><author><name sortKey="Rattray, Kate M" sort="Rattray, Kate M" uniqKey="Rattray K" first="Kate M" last="Rattray">Kate M. Rattray</name><affiliation wicri:level="1"><nlm:aff id="aff4">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne</wicri:regionArea></affiliation></author><author><name sortKey="Troski, Mark" sort="Troski, Mark" uniqKey="Troski M" first="Mark" last="Troski">Mark Troski</name><affiliation wicri:level="1"><nlm:aff id="aff4">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne</wicri:regionArea></affiliation></author><author><name sortKey="Mackey, David A" sort="Mackey, David A" uniqKey="Mackey D" first="David A." last="Mackey">David A. Mackey</name><affiliation wicri:level="1"><nlm:aff id="aff4">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne</wicri:regionArea></affiliation></author><author><name sortKey="Burdon, Kathryn P" sort="Burdon, Kathryn P" uniqKey="Burdon K" first="Kathryn P." last="Burdon">Kathryn P. Burdon</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Ophthalmology, Flinders University, Adelaide, SA, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Ophthalmology, Flinders University, Adelaide, SA</wicri:regionArea></affiliation></author></analytic><series><title level="j">Molecular Vision</title><idno type="eISSN">1090-0535</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Purpose</title><p>This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.</p></sec><sec sec-type="methods"><title>Methods</title><p>A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.</p></sec><sec><title>Results</title><p>A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals.</p></sec><sec><title>Conclusions</title><p>A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Mol Vis</journal-id><journal-id journal-id-type="publisher-id">MV</journal-id><journal-title>Molecular Vision</journal-title><issn pub-type="epub">1090-0535</issn><publisher><publisher-name>Molecular Vision</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">18431456</article-id><article-id pub-id-type="pmc">2324122</article-id><article-id pub-id-type="publisher-id">85</article-id><article-id pub-id-type="publisher-id">2008MOLVIS0021</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>A novel locus for X-linked congenital cataract on Xq24</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Craig</surname><given-names>Jamie E.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Friend</surname><given-names>Kathryn L.</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Jozef</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rattray</surname><given-names>Kate M</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Troski</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mackey</surname><given-names>David A.</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Burdon</surname><given-names>Kathryn P.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><aff id="aff1"><label>1</label>Department of Ophthalmology, Flinders University, Adelaide, SA, Australia</aff><aff id="aff2"><label>2</label>Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, SA, Australia</aff><aff id="aff3"><label>3</label>Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, SA, Australia</aff><aff id="aff4"><label>4</label>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia</aff></contrib-group><author-notes><corresp id="cor1"><bold>Correspondence to:</bold> Dr. Kathryn P. Burdon, Department of Ophthalmology, Flinders Medical Centre, Bedford Park, SA, 5042, Australia; Phone: +61 8 82044094; FAX: +61 8 82770899; email: <ext-link ext-link-type="uri" xlink:href="mailto:kathryn.burdon}{@flinders.edu.au}{">kathryn.burdon@flinders.edu.au</ext-link></corresp></author-notes><pub-date pub-type="collection"><year>2008</year></pub-date><pub-date pub-type="epub"><day>18</day><month>4</month><year>2008</year></pub-date><volume>14</volume><fpage>721</fpage><lpage>726</lpage><history><date date-type="received"><day>15</day><month>1</month><year>2008</year></date><date date-type="accepted"><day>27</day><month>3</month><year>2008</year></date></history><permissions><copyright-year>2008</copyright-year><copyright-holder>Molecular Vision</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/3.0/"><p>This is an open-access article distributed under the terms of the
Creative Commons Attribution License, which permits unrestricted use,
distribution, and reproduction in any medium, provided the original
work is properly cited.</p></license></permissions><abstract><sec><title>Purpose</title><p>This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype.</p></sec><sec sec-type="methods"><title>Methods</title><p>A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model.</p></sec><sec><title>Results</title><p>A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals.</p></sec><sec><title>Conclusions</title><p>A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome.</p></sec></abstract><custom-meta-wrap><custom-meta><meta-name>GalleyStatus</meta-name><meta-value>Export to XML</meta-value></custom-meta></custom-meta-wrap></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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