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A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy

Abstract Background 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...

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Principais autores: Rita Serra, Vincenzo Rallo, Maristella Steri, Stefania Olla, Maria Grazia Piras, Michele Marongiu, Myriam Gorospe, David Schlessinger, Antonio Pinna, Edoardo Fiorillo, Francesco Cucca, Andrea Angius
Formato: Artigo
Idioma:Inglês
Publicado: BMC 2024-07-01
Series:BMC Ophthalmology
Assuntos:
Usher syndrome
USH2A gene
Pathogenic variant
Sardinia Founder effect
Molecular screening
Acceso en liña:https://doi.org/10.1186/s12886-024-03578-4
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