{Reference Type}: Journal Article {Title}: Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. {Author}: Sarkar H;Dubis AM;Downes S;Moosajee M; {Journal}: Front Genet {Volume}: 11 {Issue}: 0 {Year}: 2020 {Factor}: 4.772 {DOI}: 10.3389/fgene.2020.00335 {Abstract}: Mutations in the retinol dehydrogenase 12 (RDH12) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy. Only one family with a heterozygous variant, associated with mild retinitis pigmentosa (RP), has been reported. We report a novel heterozygous variant [(c.759del; p.(Phe254Leufs∗24)], resulting in a frameshift and premature termination identified in two unrelated individuals with familial autosomal dominant RP. Both heterozygous variants are associated with a late onset RP phenotype, suggesting a possible genotype-phenotype correlation.