Large-scale cohort screening uncovers the USH2A P3272L founder pathogenic variant in familial Usher syndrome patients, highlighting genetic drivers of regional sensorineural loss.
Usher syndrome (USH) encompasses a group of disorders characterized by congenital sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP). We described the clinical findings, natural history, and molecular analyses of USH patients identified during a large-scale screening to identify quantitative traits related to ocular disorders in the SardiNIA project cohort.
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Serra et al. (2024) studied this question.
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