Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.

doi:10.1080/13816810.2026.2639851

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Article

Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.

Ophthalmic genetics - 1 Oct 2026

Guo Ruru, Song Mengxue, Huang Dandan, Liu Wei

Abstract excerpt

BACKGROUND: To investigate the genetic defects underlying retinitis pigmentosa (RP) in a Chinese family. METHODS: A Chinese family with RP was recruited. Whole-exome sequencing was conducted to identify potential pathogenic variants, and Sanger sequencing was used for validation. Segregation analysis was performed among family members, and bioinformatics tools were employed to predict the functional impact of the...

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Topics

Adult
Female
Humans
Male
Middle Aged
DNA Mutational Analysis
Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Extracellular Matrix Proteins

Heterozygote

Mutation

Mutation, Missense

Pedigree

Retinitis Pigmentosa

East Asian People

Source

Open in PubMed

Identifiers

PMID: 41803648
DOI: 10.1080/13816810.2026.2639851

Genes

USH2A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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