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Table 1 Mutations in the TRIOBP gene (NM_001039141.2, NP_001034230.1) according to The Human Gene Mutation Database (HGMD), their frequency in ExAC and Polish in-house WES database and available clinical data

From: Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

variant phenotype ExAC allele count ExAC allele frequency Pol_Exome allele count Pol_Exome allele frequency reference age of onset HI level ethnicity pathogenicity of variantd
c.154G>A (p.Asp52Asn) deafness 23/117210 0,0001962 0 0 [ 17 ] late onseta nd Japanese likely pathogenic (PM2)
c.802_805delCAGG (p.Gln268fs) postlingual hearing loss 1/120722 0,000008283 2 0,0019 this study postlingual moderate-to-severe Polish pathogenic (PVS1)
c.889C>T (p.Gln297*a) deafness non-syndromic 0c 0c 0 0 [ 5 ] prelingual severe-to-profound Indian pathogenic (PVS1)
c.1039C>T (p.Arg347*a) deafness non-syndromic 5/120762 0,0000414 0 0 [ 6 ] prelingual profound Palestinian pathogenic (PVS1)
c.1741C>T (p.Gln581*a) deafness non-syndromic 0c 0c 0 0 [ 6 ] prelingual profound Palestinian pathogenic (PVS1)
c.2355_2356delAG (p.Arg785fs) Hearing loss non-syndromic autosomal recessive 0c 0c 0 0 [ 2 ] nd nd Turkish pathogenic (PVS1)
c.2362C>T (p.Arg788*a) deafness non-syndromic 4/120766 0,00003312 0 0 [ 5 ] prelingual severe-to-profound Pakistani pathogenic (PVS1)
c.2581C>T (p.Arg861*a) hearing loss non-syndromic autosomal recessive 1/120758 0,000008281 0 0 [ 31 ] congenital profound Chinese pathogenic (PVS1)
c.2653del (p.Arg885fs) hearing loss 0c 0c 0 0 [ 9 ] prelingual moderate Dutch pathogenic (PVS1)
c.2758C>T (p.Arg920*a) Hearing loss non-syndromic autosomal recessive 0c 0c 0 0 [ 31 ] congenital profound Chinese pathogenic (PVS1)
c.2992G>A (p.Ala998Thr) hearing loss 85/120672 0,0007044 0 0 [ 18 ] congenital mild to moderate unknown likely pathogenic (PM2)
c.3055G>A (p.Gly1019Arg) deafness non-syndromic 0c 0c 0 0 [ 6 ] prelingual profound Palestinian likely pathogenic (PM2)
c.3202_3203delCG (p.Asp1069fs) deafness non-syndromic 0c 0c 0 0 [ 5 ] prelingual severe-to-profound Indian pathogenic (PVS1)
c.3202C>T (p.Arg1068*a) deafness non-syndromic 1/120342 0,00000831 0 0 [ 5 ] prelingual severe-to-profound Pakistani pathogenic (PVS1)
c.3232dupC (p.Arg1078fs) deafness non-syndromic 0c 0c 0 0 [ 5 ] prelingual severe-to-profound Indian pathogenic (PVS1)
c.3232C>T (p.Arg1078Cys) hearing loss non-syndromic autosomal recessive 355/120198 0,002953 0 0 [ 32 ] prelingual nd Western-European likely pathogenic (PM2)
c.3349C>T (p.Arg1117*a) deafness non-syndromic 0c 0c 0 0 [ 5 ] prelingual severe-to-profound Indian pathogenic (PVS1)
c.3451A>G (p.Met1151Val) hearing loss non-syndromic autosomal recessive 14/120634 0,0001161 0 0 [ 31 ] nd severe to profound HL of the left ear, and mild to moderate HL of the right ear Chinese uncertain significancef
c.3460_3461del (p.Leu1154fs) hearing loss 5/120614 0,00004145 0 0 [ 9 ] prelingual mild Dutch pathogenic (PVS1)
c.3662G>A (p.Arg1221Gln) hearing loss 38/116270 0,0003268 0 0 [ 18 ] congenital severe to profound unknown uncertain significancee
c.3942G > C (p.Glu1314Asp) hearing loss 3/7416 0,0004045 0 0 [ 18 ] congenital severe to profound unknown uncertain significancee
c.4187C>T (p.Pro1396Arg) hearing loss non-syndromic autosomal recessive 1/69904 0,00001431 0 0 [ 31 ] nd severe to profound HL of the left ear, and mild to moderate HL of the right ear Chinese uncertain significancef
c.4691G>C (p.Gly1564Ala) hearing loss 0c 0c 0 0 [ 18 ] nd Nd unknown likely pathogenic (PM2)
c.4840G>T (p.Gly1614Cys) deafness 18/118002 0,0001525 0 0 [ 17 ] early onsetb Nd Japanese likely pathogenic (PM2)
c. 5014G>T (p.Gly1672*a) postlingual hearing loss 59/103272 0,0005713 4 0,0038 this study/ [9] postlingual/prelingual moderate-to-severe/moderate Polish/Dutch pathogenic (PVS1)
c.5519G>A (p.Arg1840His) deafness 3/113104 0,00002652 0 0 [ 17 ] early onsetb nd Japanese likely pathogenic (PM2)
c.5767G>A (p.Ala1923Thr) hearing loss 47/31044 0,001514 0 0 [ 18 ] congenital mild to moderate unknown likely pathogenic (PM2)
c.6362C>T (p.Ser2121Leu) hearing loss non-syndromic autosomal recessive 56/19236 0,002911 0 0 [ 25 ] prelingual nd Iranian likely pathogenic (PM2)
c.6736G>A (p.Glu2246Lys) hearing loss 556/90848 0,00612 0 0 [ 18 ] congenital severe to profound unknown likely pathogenic (PM2)
c.6860G>A (p.Arg2287His) deafness 0c 0c 0 0 [ 17 ] early onsetb nd Japanese likely pathogenic (PM2)
c.7000C>T (p.Arg2334Trp) hearing loss non-syndromic autosomal recessive 2/120504 0,0000166 0 0 [ 32 ] prelingual nd Western-European likely pathogenic (PM2)
  1. Novel mutation is written in bold
  2. nd no data
  3. a above 6 y.o
  4. b below 6 y.o
  5. cnot reported in ExAC database
  6. daccording to criteria for classifying pathogenic variants described by Richards et al. [26]; PVS1 - very strong evidence of pathogenicity (null varaints in a gene where loss of function is a known mechanism of disease); PM2 moderate evidence of pathogenicity (absent from controls or at low frequency in ExAC)
  7. efound in cis with second TRIOBP variant
  8. f in silico predictions are contradictory