Article
Usher Syndrome: Genetics of a Human Ciliopathy.
International journal of molecular sciences - 23 Jun 2021
Fuster-García Carla, García-Bohórquez Belén, Rodríguez-Muñoz Ana, Aller Elena, Jaijo Teresa, Millán José M, García-García Gema
Abstract excerpt
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which...
Topics
- Animals
- Cadherin Related Proteins
- Cadherins
- Cell Cycle Proteins
- Ciliopathies
- Cytoskeletal Proteins
- Disease Models, Animal
- Genetic Association Studies
- Humans
- Membrane Proteins
- Mutation