Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

Mutations in <i>POC1B</i> are a rare cause of inherited retinal degeneration. In this study, we present a thorough phenotypic and genotypic characterization of three individuals harboring putatively pathogenic variants in the <i>POC1B</i> gene. All patients displayed a simila...

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Bibliographic Details
Main Authors: Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B. Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
cone dystrophy
cone-rod dystrophy
<i>POC1B</i>
non-canonical splice site variant
deep intronic splice variant
in vitro splice assay
Online Access:https://www.mdpi.com/1422-0067/22/10/5396

Internet

https://www.mdpi.com/1422-0067/22/10/5396

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