Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

Hajrah Sarkar; Adam M Dubis; Susan Downes; Mariya Moosajee

doi:10.3389/fgene.2020.00335

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

Front Genet. 2020 Apr 8:11:335. doi: 10.3389/fgene.2020.00335. eCollection 2020.

Authors

Hajrah Sarkar¹, Adam M Dubis^{1

2}, Susan Downes³, Mariya Moosajee^{1

2

4}

Affiliations

¹ Development, Ageing and Disease Theme, UCL Institute of Ophthalmology, London, United Kingdom.
² Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
³ Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom.
⁴ Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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.

Keywords: Leber congenital amaurosis; RDH12; adaptive optics; autosomal dominant; retinitis pigmentosa.