RESUMEN
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60-year-old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing. A novel nonsense variant, c.267G>A p.(Trp89*), was identified at a homozygous state in the proband in REEP6 gene, recently reported mutated in 7 unrelated families with RCD. Further functional studies will help to understand the physiopathology associated with REEP6 mutations that may be linked to a protein trafficking defect.
Asunto(s)
Codón sin Sentido , Distrofias de Conos y Bastones/diagnóstico , Distrofias de Conos y Bastones/genética , Proteínas del Ojo/genética , Alelos , Consanguinidad , Femenino , Angiografía con Fluoresceína , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Proteínas de la Membrana , Persona de Mediana Edad , Linaje , FenotipoRESUMEN
We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not reveal further pathogenic chances in ARL2BP indicating that mutations in ARL2B are a rare cause of arRCD (about 0.1%) in a large cohort of French patients.
