New Genetic Locus for Cone-Rod Dystrophy Identified
Author Information
Author(s): Manes Gaël, Hebrard Maxime, Bocquet Béatrice, Meunier Isabelle, Coustes-Chazalette Delphine, Sénéchal Audrey, Bolland-Augé Anne, Zelenika Diana, Hamel Christian P
Primary Institution: INSERM U1051, Institute for Neurosciences of Montpellier
Hypothesis
Can we identify new genes responsible for autosomal dominant cone-rod dystrophy?
Conclusion
A novel locus for autosomal dominant cone-rod dystrophy, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non-consanguineous French family.
Supporting Evidence
- A whole-genome scan revealed a 41.3-Mb locus on chromosome 2.
- Linkage analysis confirmed the locus with a maximum LOD score of 2.86.
- Five candidate genes within the locus were screened for mutations but none were found.
Takeaway
Scientists found a new location in our genes that might cause a type of eye disease that can lead to blindness.
Methodology
Family members underwent ophthalmological examination, linkage analysis, and whole-genome SNP analysis.
Limitations
The causative gene within the CORD12 locus remains unidentified.
Participant Demographics
The study involved a large non-consanguineous French family with 22 members.
Statistical Information
P-Value
2.86
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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