ADGRV1 gene

Overview

Gene (OMIM no.)
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.)
Inheritance
  • Autosomal recessive
Ocular features
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 diagnosisNext generation sequencing
  • Targeted gene panels (retinal and deafness)
  • Whole exome sequencing
  • Whole genome sequencing
  • Targeted exome sequencing
Management
Therapies under research
  • None at present
Further information

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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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Updated on August 18, 2022
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