Review
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
Table 2 Comparison between Usher syndrome genes, OMIM number, representative mutations, and ethnic/geographic regions
Genes
OMIM number
Representative mutations
Ethnic/geographic regions
MYO7A276903[47]Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1B[47]China, Japan, Pakistan, Netherlands, Iran, and Sweden[47]
USH1C605242[48]Deafness, autosomal recessive 18A; Usher syndrome, type 1C[48]Louisiana Acadians, and Lebanon[48]
CDH23605516[49]Deafness, autosomal recessive 12; Usher syndrome, type 1D[49]Cuba, Germany, and Japan[49]
PCDH15605514[50]Deafness, autosomal recessive 23; Usher syndrome, type 1F[50]Pakistan[50]
USH1G(SANS)607696[51]Usher syndrome, type 1G[51]Tunisia, Germany, and Jordan[51]
USH2A608400[52]Retinitis pigmentosa 39; Usher syndrome, type 2A[52]Denmark, Norway, Spain, and Iraqi Jewish[52]
ADGRV1602851[53]Usher syndrome, type 2C; Usher syndrome, type 2C, GPR98/PDZD7 digenic; Familial Febrile Seizures 4[53]Japan and France[53]
WHRN607928[54]Deafness, autosomal recessive 31; Usher syndrome, type 2D[54]Palestine, Tunisia, and Germany[54]
CLRN1606397[55]Retinitis pigmentosa 61; Usher syndrome, type 3A[55]Italy, Ashkenazi Jewish population, and Spain[55]
ABHD121613599[56]Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract[56]Norway, United Arab Emirates, United States, Algeria, Spain, and Netherlands[56]
HARS1142810[57]Charcot-Marie-Tooth disease, axonal, type 2W; Usher syndrome type 3B[57]Old Order Amish families in Pennsylvania[57]