Article
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2025
Redfield Shelby E, Mauriac Stephanie A, Géléoc Gwenaëlle S, Shearer A Eliot
Abstract excerpt
Usher syndrome, the most common form of deaf-blindness, displays extensive genetic, allelic, and phenotypic heterogeneity. The dual sensory impairment associated with this autosomal recessive disorder makes Usher syndrome an important target for gene therapy, with dozens of published preclinical studies targeting multiple Usher syndrome genes and using multiple gene therapy strategies. Nine genes have been...
Topics
- Usher Syndromes
- Humans
- Prevalence
- Genomics
- Extracellular Matrix Proteins
- Child
- Genetic Therapy
- Databases, Genetic
- Mutation