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Article

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.

Cold Spring Harbor molecular case studies - 1 Feb 2022

Scott Hilary A, Larson Anna, Rong Shi Song, Mehrotra Sudeep, Butcher Rossano, Chao Katherine R, Wiggs Janey L, Place Emily M, Pierce Eric A, Bujakowska Kinga M

Abstract excerpt

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is an inherited condition leading to vision loss, affecting 1 in 3500 people. More than 270 genes are known to be implicated in the inherited retinal degenerations (IRDs), yet genetic diagnosis for ∼30% of IRD of patients remains elusive despite advances in sequencing technologies. The goal of this study was to determine the genetic causality in a...

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PMID: 34728537
DOI: 10.1101/mcs.a006131
PMCID: PMC8958919

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