USH1G gene


Gene (OMIM No.)
Function of gene/protein
  • Scaffolding protein for Usher protein networks in the inner ear hair cells and retinal photoreceptors
  • Required for normal development and function of the hair cell stereocilia
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
Ocular features
Visual function
  • Nyctalopia with pre-adolescent onset
  • Peripheral visual field loss
  • Loss of central and colour vision in later life
Systemic features
  • Congenital, bilateral, severe to profound sensorineural hearing loss
  • Failed newborn hearing screen or hearing difficulties suspected in infancy
  • Vestibular dysfunction affecting balance from birth
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
Therapies under research
Further information

Jump to top

Additional information

Although USH1G is generally considered to be causative of Usher syndrome alone, [2] one family with non-syndromic sensorineural hearing loss associated with compound heterozygous missense and frameshift mutations in USH1G has been reported. [3]

Jump to top


  1.  Emptoz A, Michel V, Lelli A, et al. Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. Proc Natl Acad Sci U S A. 2017;114(36):9695-9700
  2.  Weil D, El-Amraoui A, Masmoudi S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003;12(5):463-471
  3.  Oonk AMM, van Huet RA, Leijendeckers JM, et al. Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. Ear Hear. 2015;36(2):205-211

Jump to top

Updated on November 30, 2020
Was this article helpful?