A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was verified thro...

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Bibliographic Details
Main Authors: Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, Winston Lee, Jana Zernant, Pei-Yin Su, Angela H. Kim, Laura A. Jenny, Tingting Yang, Rando Allikmets, Stephen H. Tsang
Format: Article
Language:English
Published: American Society for Clinical investigation 2022-12-01
Series:JCI Insight
Subjects:
Genetics
Ophthalmology
Online Access:https://doi.org/10.1172/jci.insight.162687

Internet

https://doi.org/10.1172/jci.insight.162687

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