Genetic Screening of the Usher Syndrome in Cuba.

Background: Usher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in Europe and United States, there is a lack of studies in other regions like Africa or Central and South America.

Methods: We designed a NGS panel that included the 10 USH causative genes (, , , , , , , , , and ), four USH associated genes (, , , and ), and the region comprising the deep-intronic c.