A novel locus (<it>CORD12</it>) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

<p>Abstract</p> <p>Background</p> <p>Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non...

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Main Authors: Meunier Isabelle (Author), Bocquet Béatrice (Author), Hebrard Maxime (Author), Manes Gaël (Author), Coustes-Chazalette Delphine (Author), Sénéchal Audrey (Author), Bolland-Augé Anne (Author), Zelenika Diana (Author), Hamel Christian P (Author)
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Published: BMC, 2011-04-01T00:00:00Z.
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042 |a dc 
100 1 0 |a Meunier Isabelle  |e author 
700 1 0 |a Bocquet Béatrice  |e author 
700 1 0 |a Hebrard Maxime  |e author 
700 1 0 |a Manes Gaël  |e author 
700 1 0 |a Coustes-Chazalette Delphine  |e author 
700 1 0 |a Sénéchal Audrey  |e author 
700 1 0 |a Bolland-Augé Anne  |e author 
700 1 0 |a Zelenika Diana  |e author 
700 1 0 |a Hamel Christian P  |e author 
245 0 0 |a A novel locus (<it>CORD12</it>) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1 
260 |b BMC,   |c 2011-04-01T00:00:00Z. 
500 |a 10.1186/1471-2350-12-54 
500 |a 1471-2350 
520 |a <p>Abstract</p> <p>Background</p> <p>Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD.</p> <p>Methods</p> <p>Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing.</p> <p>Results</p> <p>We first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, <it>CERKL</it>, <it>BBS5, KLHL23, NEUROD1</it>, and <it>SF3B1 </it>within this locus, were not mutated.</p> <p>Conclusion</p> <p>A novel locus for adCRD, named <it>CORD12</it>, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.</p> 
546 |a EN 
690 |a Internal medicine 
690 |a RC31-1245 
690 |a Genetics 
690 |a QH426-470 
655 7 |a article  |2 local 
786 0 |n BMC Medical Genetics, Vol 12, Iss 1, p 54 (2011) 
787 0 |n http://www.biomedcentral.com/1471-2350/12/54 
787 0 |n https://doaj.org/toc/1471-2350 
856 4 1 |u https://doaj.org/article/fccb4871f4fb4e89a6c2fd5d7f2e4f0f  |z Connect to this object online.