ADGRV1 gene

• Overview
• Usher syndrome
• Retinitis pigmentosa
• References

Overview

Gene (OMIM no.)	ADGRV1 (#602851)
Function of gene/protein	Adhesion G-coupled receptor Component of the ankle links in the stereocilia of the developing inner ear hair cells Required for correct postnatal development of hair cells in stereocilia Localises to periciliary membrane complex at the photoreceptor connecting cilium
Clinical phenotype (with OMIM phenotype no.)	Usher syndrome type 2C (#605472)
Inheritance	Autosomal recessive
Ocular features	Retinitis pigmentosa
Visual function	Nyctalopia starting around adolescence or later Peripheral visual field loss Loss of central and colour vision in later life
Systemic features	Congenital bilateral sensorineural hearing loss; mild to moderate in low frequencies, severe to profound in high frequencies Failed newborn hearing screen or hearing difficulties suspected in infancy
Key investigations	Newborn hearing screen – otoacoustic emission and automated auditory brainstem response Pure tone audiometry Electrophysiology Fundus autofluorescence (FAF): a ring of hyper-AF in the macula Optical coherence tomography (OCT): progressive loss of outer retinal structures which spares the fovea initially; cystoid macular oedema may be detected Kinetic perimetry
Molecular diagnosis	Next generation sequencing Targeted gene panels (retinal and deafness) Whole exome sequencing Whole genome sequencing Targeted exome sequencing
Management	Hearing aids/cochlear implants Management of retinitis pigmentosa Management of Usher syndrome
Therapies under research	None at present
Further information	Medline Plus

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References

1. Weston MD, Luijendijk MWJ, Humphrey KD, Moller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004;74(2):357-366.
2. McGee J, Goodyear RJ, McMillan DR, et al. The very large G-protein-coupled receptor Vlgr1: A component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci. 2006;26(24):6543-6553.
3. Yagi H, Tokano H, Maeda M, et al. Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. Genes Cells. 2007;12(2):235-250.
4. Maerker T, van Wijk E, Overlack N, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17(1):71-86.

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