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Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.

Ophthalmic genetics - 1 Apr 2023

Jung SeungHee, Park Young Chan, Lee DongHee, Kim SiYeon, Kim Sang-Mo, Kim YoungJin, Lee DongHyun, Hyun JaeJoung, Koh InSong, Lee Jong-Young

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is an inherited disorder that causes progressive loss of vision. This study aimed to describe the possible causative variants of the USH2A gene in Korean RP families and their associated phenotypes. MATERIALS AND METHODS: We recruited 94 RP families (220 subjects, including 94 probands and 126 family members) in a Korean cohort, and analyzed USH2A gene variants through...

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DNA Mutational Analysis
Exome Sequencing
Extracellular Matrix Proteins
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Republic of Korea

Retinitis Pigmentosa

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PMID: 36314366
DOI: 10.1080/13816810.2022.2138456

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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