Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Visual function | Usher syndrome
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management |
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Therapies under research |
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Further information |
Additional information
USH1C mutations cause Usher syndrome type 1C[8,9] and autosomal recessive non-syndromic hearing loss (DFNB18).[10] Variants that cause DFNB18, which include a leaky splice site mutation IVS12+5G>C, have been proposed to have a less deleterious effect as they are located within alternatively spliced exons.[10,11]
References
- Pan B, Askew C, Galvin A, et al. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol. 2017;35(3):264-272
- Overlack N, Goldmann T, Wolfrum U, Nagel-Wolfrum K. Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. Invest Ophthalmol Vis Sci. 2012;53(7):4140-4146
- Goldmann T, Rebibo-Sabbah A, Overlack N, et al. Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina. Invest Ophthalmol Vis Sci. 2010;51(12):6671-6680
- Goldmann T, Overlack N, Moeller F, et al. A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation. EMBO Mol Med. 2012;4(11):1186-1199
- Lentz JJ, Jodelka FM, Hinrich AJ, et al. Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med. 2013;19(3):345-350
- Depreux FF, Wang L, Jiang H, et al. Antisense oligonucleotides delivered to the amniotic cavity in utero modulate gene expression in the postnatal mouse. Nucleic Acids Res. 2016;44(20):9519-9529
- Wang L, Kempton JB, Jiang H, et al. Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction. Nucleic Acids Res. 2020
- Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000;26(1):56-60
- Verpy E, Leibovici M, Zwaenepoel I, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet. 2000;26(1):51-55
- Ahmed ZM, Smith TN, Riazuddin S, et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet. 2002;110(6):527-531
- Ouyang XM, Xia XJ, Verpy E, et al. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet. 2002;111(1):26-30