Article
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2025
Hayman Tamar, Ovadia Shai, Krishnan Jaya, Bouckaert Manon, Panneman Daan M, English Milton, Valensi Johanna, Cremers Frans P M, Ben Yosef Tamar, van den Born L Ingeborgh, de Bruijn Suzanne E, Roosing Susanne, Banin Eyal, Khateb Samer, Ashery-Padan Ruth, Coppieters Frauke, Swaroop Anand, Sharon Dror
Abstract excerpt
PURPOSE: Variants in untranslated genomic regions are difficult to identify as pathogenic but are capable of causing disease by interfering with gene expression. This study aimed to characterize the effect of variants identified in the 5'-untranslated region of EYS in patients with autosomal recessive retinitis pigmentosa (RP). METHODS: Variant screening included gene panels, Sanger, exome, and genome sequencing....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.