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| Retinal disorders v9.19 | PRKCZ |
Siying Lin gene: PRKCZ was added gene: PRKCZ was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: PRKCZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKCZ were set to PMID: 42955015 Phenotypes for gene: PRKCZ were set to retinal dystrophy; retinitis pigmentosa Mode of pathogenicity for gene: PRKCZ was set to Other Review for gene: PRKCZ was set to GREEN Added comment: Bi-allelic PRKCZ variants were identified in 13 affected individuals from 10 unrelated families with autosomal recessive, adult-onset retinitis pigmentosa (onset 18–49 years), characterised by progressive night blindness, peripheral visual field constriction and eventual central vision loss. Six rare variants were identified, predominantly predicted loss-of-function variants, all affecting the long, retinal-enriched PRKCZ isoform. Functional studies demonstrated reduced PRKCZ expression, impaired ciliogenesis and altered mitochondrial organisation, while a missense variant disrupted PB1 domain-mediated protein interactions. Sources: Literature |
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