Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy

Michael Backlund; Suzie Gasparian; Pauliina Repo; Harri Kangas; Kati Donner; Heidi Putkuri; Sanna Seitsonen; Maarjaliis Paavo; Tero Kivelä; David Sierpina; Joni A. Turunen

doi:10.1080/13816810.2025.2568004

October 5, 2025Ophthalmic Genetics

Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy

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Key Points

Novel pathogenic duplications in the PRPH2 gene were identified through long-read sequencing technology.
Two families with dominantly inherited macular dystrophies showed clinical variability related to PRPH2 gene variants.
The study used adaptive nanopore long-read sequencing to achieve precise genetic diagnoses.
These findings highlight the importance of advanced sequencing methods in understanding retinal dystrophies.

Implication

Adaptive nanopore sequencing uncovers genetic causes of macular dystrophy, suggesting new diagnostic avenues.

Abstract

Purpose Clinical variability and incomplete penetrance characterize retinal dystrophies associated with PRPH2 gene variants. Here, we utilized adaptive nanopore long-read sequencing (LRS) to solve a genetic diagnosis for dominantly inherited macular dystrophies in two families.

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Cite This Study

Backlund et al. (2025) studied this question.

synapsesocial.com/papers/68e5a0557f330f793683f1dc https://doi.org/10.1080/13816810.2025.2568004

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Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy

Key Points

Implication

Abstract

Discussion

Cite This Study

Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy

Key Points

Implication

Abstract

Discussion

Cite This Study

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