Copyright
©The Author(s) 2024.
World J Otorhinolaryngol. Jan 19, 2024; 11(1): 1-17
Published online Jan 19, 2024. doi: 10.5319/wjo.v11.i1.1
Published online Jan 19, 2024. doi: 10.5319/wjo.v11.i1.1
Type | Hearing loss | Vision loss | Vestibular function |
Type 1 | Profound bilateral hearing loss at birth[26,149] | Earlier onset, in the first decade of life[13,26] | Vestibular areflexia at birth[26] |
Type 2 | Moderate to severe hearing loss at birth[13,24] | Late childhood or teens[26] | Normal[44] |
Type 3 | Normal at birth, with progressive loss[28,164] | Commonly in early youth[13,26] | Variable[38] |
Genes | OMIM number | Representative mutations | Ethnic/geographic regions |
MYO7A | 276903[47] | Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1B[47] | China, Japan, Pakistan, Netherlands, Iran, and Sweden[47] |
USH1C | 605242[48] | Deafness, autosomal recessive 18A; Usher syndrome, type 1C[48] | Louisiana Acadians, and Lebanon[48] |
CDH23 | 605516[49] | Deafness, autosomal recessive 12; Usher syndrome, type 1D[49] | Cuba, Germany, and Japan[49] |
PCDH15 | 605514[50] | Deafness, autosomal recessive 23; Usher syndrome, type 1F[50] | Pakistan[50] |
USH1G | 607696[51] | Usher syndrome, type 1G[51] | Tunisia, Germany, and Jordan[51] |
USH2A | 608400[52] | Retinitis pigmentosa 39; Usher syndrome, type 2A[52] | Denmark, Norway, Spain, and Iraqi Jewish[52] |
ADGRV1 | 602851[53] | Usher syndrome, type 2C; Usher syndrome, type 2C, GPR98/PDZD7 digenic; Familial Febrile Seizures 4[53] | Japan and France[53] |
WHRN | 607928[54] | Deafness, autosomal recessive 31; Usher syndrome, type 2D[54] | Palestine, Tunisia, and Germany[54] |
CLRN1 | 606397[55] | Retinitis pigmentosa 61; Usher syndrome, type 3A[55] | Italy, Ashkenazi Jewish population, and Spain[55] |
ABHD121 | 613599[56] | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract[56] | Norway, United Arab Emirates, United States, Algeria, Spain, and Netherlands[56] |
HARS1 | 142810[57] | Charcot-Marie-Tooth disease, axonal, type 2W; Usher syndrome type 3B[57] | Old Order Amish families in Pennsylvania[57] |
- Citation: Cuzzuol BR, Apolonio JS, da Silva Júnior RT, de Carvalho LS, Santos LKS, Malheiro LH, Silva Luz M, Calmon MS, Crivellaro HL, Lemos FFB, Freire de Melo F. Usher syndrome: Genetic diagnosis and current therapeutic approaches. World J Otorhinolaryngol 2024; 11(1): 1-17
- URL: https://www.wjgnet.com/2218-6247/full/v11/i1/1.htm
- DOI: https://dx.doi.org/10.5319/wjo.v11.i1.1