The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
Summary:
The paper discusses a study on a Sicilian family with a suspected form of Cone-Rod Dystrophy (CORD), identifying the GUCY2D gene as the causative gene and six novel candidate modifier genes carrying nine previously undescribed variants.
Categories
- Eye health: The paper discusses Cone-Rod Dystrophies (CORDs), a group of inherited retinopathies that affect eye health, and identifies potential modifier genes that may impact the heterogeneity of CORD.
- Genetics: The paper uses next-generation sequencing to identify the GUCY2D gene as the causative gene for CORD in the studied family and identifies six novel candidate modifier genes.
- Education and learning: The paper contributes to the understanding of the genetic basis of CORD, providing new insights that could be used in educational settings to teach about the complexity of genetic diseases.
Author(s)
L Donato, S Alibrandi, C Scimone, C Rinaldi
Publication Year:
2022
Number of Citations:
24
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