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Article

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).

Human molecular genetics - 21 Jan 2021

Moreno-Leon Laura, West Emma L, O'Hara-Wright Michelle, Li Linjing, Nair Rohini, He Jie, Anand Manisha, Sahu Bhubanananda, Chavali Venkat Ramana Murthy, Smith Alexander J, Ali Robin R, Jacobson Samuel G, Cideciyan Artur V, Khanna Hemant

Abstract excerpt

Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause severe retinal ciliopathy, X-linked retinitis pigmentosa. Although two major alternatively spliced isoforms, RPGRex1-19 and RPGRORF15, are expressed, the relative importance of these isoforms in disease pathogenesis is unclear. Here, we analyzed fibroblast samples from eight patients and found that all of them form longer cilia than normal controls,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33355362
DOI: 10.1093/hmg/ddaa269
PMCID: PMC7823108

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RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).PMID 33355362Read ↗

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