Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

The article discusses a study on the prevalence and nature of mutations of the C2orf71 gene in a cohort of French patients with autosomal-recessive retinitis pigmentosa (arRP). A total of 209 of the 345 subjects underwent direct sequencing of C2orf71. The pathogenicity of sequence variants was assessed by means of co-segregation analysis, chromosome screening and prediction programs. The study identified a single variant of likely pathogenicity and many novel putative non-disease causing variants.