RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

doi:10.3390/medicina60020254

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Article

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

Medicina (Kaunas, Lithuania) - 1 Feb 2024

D'Esposito Fabiana, Randazzo Viviana, Vega Maria Igea, Esposito Gabriella, Maltese Paolo Enrico, Torregrossa Salvatore, Scibetta Paola, Listì Florinda, Gagliano Caterina, Scalia Lucia, Pioppo Antonino, Marino Antonio, Piergentili Marco, Malvone Emanuele, Fioretti Tiziana, Vitrano Angela, Piccione Maria, Avitabile Teresio, Salvatore Francesco, Bertelli Matteo, Costagliola Ciro, Cordeiro Maria Francesca, Maggio Aurelio, D'Alcamo Elena

Abstract excerpt

Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod-cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs. Among the over 30 genes found to date related to ADRP, RP1 pathogenic variants have been identified in 5-10% of cases. In a cohort of RCD patients...

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PMID: 38399542
DOI: 10.3390/medicina60020254
PMCID: PMC10890639

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