A novel locus for X-linked congenital cataract on Xq24
Identifieur interne : 002662 ( Pmc/Checkpoint ); précédent : 002661; suivant : 002663A 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.
Url:
PubMed: 18431456
PubMed Central: 2324122
Affiliations:
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<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>
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<title-group><article-title>A novel locus for X-linked congenital cataract on Xq24</article-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Craig</surname>
<given-names>Jamie E.</given-names>
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<xref ref-type="aff" rid="aff1"><sup>1</sup>
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<contrib contrib-type="author"><name><surname>Friend</surname>
<given-names>Kathryn L.</given-names>
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<xref ref-type="aff" rid="aff2"><sup>2</sup>
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<contrib contrib-type="author"><name><surname>Gecz</surname>
<given-names>Jozef</given-names>
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<xref ref-type="aff" rid="aff2"><sup>2</sup>
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<xref ref-type="aff" rid="aff3"><sup>3</sup>
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<contrib contrib-type="author"><name><surname>Rattray</surname>
<given-names>Kate M</given-names>
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<xref ref-type="aff" rid="aff4"><sup>4</sup>
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<contrib contrib-type="author"><name><surname>Troski</surname>
<given-names>Mark</given-names>
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<xref ref-type="aff" rid="aff4"><sup>4</sup>
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<contrib contrib-type="author"><name><surname>Mackey</surname>
<given-names>David A.</given-names>
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<xref ref-type="aff" rid="aff4"><sup>4</sup>
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<contrib contrib-type="author" corresp="yes"><name><surname>Burdon</surname>
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<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>
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<pub-date pub-type="collection"><year>2008</year>
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<pub-date pub-type="epub"><day>18</day>
<month>4</month>
<year>2008</year>
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<volume>14</volume>
<fpage>721</fpage>
<lpage>726</lpage>
<history><date date-type="received"><day>15</day>
<month>1</month>
<year>2008</year>
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<date date-type="accepted"><day>27</day>
<month>3</month>
<year>2008</year>
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<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>
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