Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies

Background: We report a Spanish family, comprising an affected mother and daughter, respectively diagnosed with retinitis pigmentosa Stargardt-like macular dystrophy, in whom we identified PROM1 mutation. Methods: A custom gene panel consisting of 119 inherited retinal dystrophies (IRD)-genes was applied the two individuals this family sequenced using Illumina´s NextSeq500 platform. Results: The analysis resulting data allowed us to identify pathogenic mutation c.1117C>T (p.Arg373Cys) as primary cause disease both patients. No additional variants contributing extent dysfunction were detected. Conclusion: variable expressivity detected is most likely responsible for intrafamilial phenotypic variability observed family. Screening should be considered patients compatible clinical manifestations, especially when accompanied by autosomal dominant history.