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Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C.

Ophthalmic genetics - 1 Feb 2026

Wang Jiale, Li Ya, Yao Shun, Guo Qinge, Liu Changgeng, Lei Bo

Abstract excerpt

PURPOSE: Non-coding regions are long, and there is little research on their variations contributing to disease. This study analyzed a patient with Usher syndrome Type 1F (USH1F) and discovered two compound heterozygous non-coding variants in the PCDH15 gene. METHODS: The proband underwent ophthalmologic examinations. Whole exome sequencing (WES) was performed. PCDH15 minigene was constructed and validated....

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Identifiers

PMID: 41131664
DOI: 10.1080/13816810.2025.2576776

Genes

PCDH15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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