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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