A Novel Targeted-Sequencing Panel to detect LRP5 Gene Variants in Orphan Pediatric Retinal Diseases

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Authors

Daeun Jeong, Oakland University William Beaumont School of Medicine Medical Student
Kenneth P. Mitton
Kimberly A. Drenser, Corewell Health East

Description

Orphan pediatric retinal diseases which encompass Familial exudative vitreoretinopathy (FEVR), Norrie Disease, and Retinoschisis are associated with mutations in genes involved in the Wnt signaling network, including FZD4, LRP5, TSPAN12, and NDP. See figure-1. FEVR is a retinal disease that lacks normal vascularization and angiogenesis to the peripheral retina. LRP5 variants account for 10-25% of cases of autosomal dominant FEVR. However, not all cases have been linked to these existing variants. Next generation sequencing was used to sequence 76 subjects for novel variants to expand the spectrum of LRP5 variants and better understand the mechanism of pathogenicity.

Publication Date

5-2024

Keywords

retinal diseases, pediatric, Familial exudative vitreoretinopathy

Disciplines

Ophthalmology

Recommended Citation

Jeong D, Mitton KP, Drenser KA. A novel targeted-sequencing panel to detect LRP5 gene variants in orphan pediatric retinal diseases. Poster presented at: Oakland University William Beaumont School of Medicine Embark Capstone Colloquium; 2024 May; Rochester Hills, MI.

Comments

The Embark Capstone Colloquium at the Oakland University William Beaumont School of Medicine, Rochester Hills, MI, May, 2024.