Table 1 Mutations located in the PREP program results
From: Deafness mutation mining using regular expression based pattern matching
Mutation Name | Mutation Effect | Representative Source |
|---|---|---|
DFNA1 | Diaphonous gene mutation associated with autosomal dominant non-syndromic hearing loss | 9 |
DFNA10 | Mutation in EYA4 causes late onset deafness | 10 |
DFNA11 | MYO7A mutation that results in progressive loss of mechanotransduction | 11 |
DFNA12 | TECTA mutation resulting in hearing impairment | 12 |
DFNA13 | Mutation leading to cochlear conductive loss | 13 |
DFNA14 | wolframin mutation cauisng non-syndromic dominant low frequency hearing loss | 14 |
DFNA15 | Mutation in POU4F3 that leads to autosomal dominant non-syndromic hearing loss | 15 |
DFNA17 | Mutation in myosin heavy chain IX linked to hearing impairment | 16 |
DFNA2 | KCNQ4 potassium channel mutation leading to progressive hearing loss | 17 |
DFNA20 | ACTG1 mutation causing autosomal dominant heairng loss | 18 |
DFNA24 | Caspase 3 mutation associated with autosomal dominant non-syndromic hearing loss | 19 |
DFNA26 | ACTG1 mutation causing autosomal dominant heairng loss | 18 |
DFNA36 | Mutation in transmembrane cochlear expressed gene 1 causing progressive deafness | 20 |
DFNA38 | wolframin mutation cauisng non-syndromic dominant low frequency hearing loss | 14 |
DFNA39 | Hearing loss associated with Dentinogenesis imperfecta | 21 |
DFNA4 | MYH14 mutation leading to autosomal dominant hearing loss | 23 |
DFNA48 | MYO1A mutation resulting in autosomal dominant hearing loss | 22 |
DFNA5 | Mutation causing autosomal dominant hearing impairment | 24 |
DFNA6 | wolframin mutation cauisng non-syndromic dominant low frequency hearing loss | 14 |
DFNA8 | TECTA mutation resulting in hearing impairment | 12 |
DFNA9 | Coagulation factor C homology gene mutations causing sensioneural hearing loss | 25 |
DFNB1 | Connexin 26 mutation leading to non-syndromic hearing loss | 26 |
DFNB11 | Mutation in transmembrane cochlear expressed gene 1 causing congenital deafness | 20 |
DFNB12 | Cadherin 23 mutation causing prelingual hearing loss | 14 |
DFNB13 | Mutations causing autosomal recessive non-syndromic deafness | 27 |
DFNB14 | Hearing loss associated with split hand/split foot malformation | 28 |
DFNB16 | Stereocilan mutation leading to autsomal recessive non-syndromic deafness | 29 |
DFNB17 | FAM3C mutation causing autosomal recessive non-syndromic hearing loss | 30 |
DFNB18 | Deafness associated with Usher syndrome 1C | 31 |
DFNB2 | Deafness associated with mutations in myosin VIIA gene | 32 |
DFNB22 | Otoancorin mutation resulting in autosmal recessive deafness | 33 |
DFNB23 | Usher Syndrome 1F related deafness | 34 |
DFNB25 | Chromosome 5 mutation that effects sensory mechanotransduction | 35 |
DFNB28 | TRIOBP mutation resulting in recessive prelingual sensioneural hearing loss | 36 |
DFNB29 | CLDN14 mutations resulting in autosomal recessive non-syndromic deafness | 37 |
DFNB3 | Myo15a related non-syndromic deafness | 38 |
DFNB30 | Mutation in myosin IIIA resulting in progressive hearing loss | 39 |
DFNB31 | Whirlin mutation resulting in hearing loss | 18 |
DFNB4 | Mutation in PDS gene causing congenital deafness | 40 |
DFNB59 | Autosomal recessive auditory neuropathy | 41 |
DFNB6 | Mutation causing autosomal recessive deafness | 42 |
DFNB67 | Mutation in THMS causing recessive non-syndromic hearing loss | 43 |
DFNB7 | Mutation in transmembrane cochlear expressed gene 1 causing congenital deafness | 20 |
DFNB8 | TMPRSS3 mutation associated with non-syndromic autosommal recessive hearing loss | 44 |
DFNB9 | Mutation in otoferlin causing prelingual hearing loss | 45 |