Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted. Next generation sequencing was used to identify the mutation which was next confirmed by bidirectional Sanger sequencing. RESULTS: A novel mutation of the TOPORS gene was identified, c.2539C>T p.(Arg847Ter), resulting in a premature termination codon and suggesting haploinsufficiency as the pathological mechanism. CONCLUSIONS: Since the cDNA encoding TOPORS is 3,135 nucleotides (within the coding capacity of AAV vectors) and haploinsufficiency is a mechanism relating to inadequate gene expression, gene replacement therapy may be an option for patients with this condition.

Original publication

DOI

10.1080/13816810.2017.1313994

Type

Journal article

Journal

Ophthalmic Genet

Publication Date

12/2017

Volume

38

Pages

562 - 566

Keywords

Autosomal dominant retinitis pigmentosa, TOPORS gene, haploinsufficiency, Adult, Codon, Nonsense, DNA Mutational Analysis, Female, Genes, Dominant, Haploinsufficiency, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Neoplasm Proteins, Nuclear Proteins, Pedigree, Retinitis Pigmentosa, Ubiquitin-Protein Ligases