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RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.

Abstract : Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). We found 13 nonpathogenic variants only, among which a c.730_731delATinsG that truncates the last two transmembrane-spanning fragments and the Lys284 required for retinol binding, but does not segregate with the disease phenotype. We conclude that RRH is not a frequent gene in retinitis pigmentosa.
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https://www.hal.inserm.fr/inserm-00145378
Contributor : Christian Hamel <>
Submitted on : Thursday, March 6, 2008 - 11:25:39 AM
Last modification on : Friday, May 15, 2020 - 12:22:04 PM
Long-term archiving on: : Wednesday, April 7, 2010 - 12:45:48 AM

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Mohamed Ksantini, Audrey Sénéchal, Ghyslaine Humbert, Bernard Arnaud, Christian Hamel. RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.. Ophthalmic Genetics, Taylor & Francis, 2007, 28 (1), pp.31-7. ⟨10.1080/13816810701202052⟩. ⟨inserm-00145378⟩

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