Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

Abstract Senior-Løken syndrome is a rare ciliopathy characterized by retinal dystrophy and nephronophthisis. This autosomal recessive inherited disease is caused by pathogenic variants in several genes, including IQCB1. We present a Senior-Løken case that remained genetically unexplained after routi...

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Main Authors: Suzanne E. de Bruijn, L. Ingeborgh van den Born, Ronny Derks, Lonneke Haer-Wigman, Luke O’Gorman, Frans P. M. Cremers, Ronald van Beek, Alexander Hoischen, Susanne Roosing, Kornelia Neveling
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00490-8
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https://doi.org/10.1038/s41525-025-00490-8

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