USH1G gene

• Overview
• Usher syndrome
• Additional information
• References

Overview

Gene (OMIM No.)	USH1G (#607696)
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.)	Usher syndrome type 1G (#606943)
Inheritance	Autosomal recessive
Ocular features	Retinitis pigmentosa
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 diagnosis	Next generation sequencing Targeted gene panels (retinal and deafness) Whole exome sequencing Whole genome sequencing Targeted exome sequencing
Management	Cochlear implantation within first two years of life Management of RP Management of Usher syndrome
Therapies under research	Gene therapy (pre-clinical)
Further information	Medline Plus

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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]

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References

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