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Table 3 Details of final candidates from eleven deaf subjects molecular genetically diagnosed and three subjects with only one mutant allele of recessive genes after targeted exome sequencing of 204 deafness genes

From: Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication

A) Highly probable cases (n=9)
Patient Gene Inheritance DP GQ Type Chr Genbank No. Exon Nucleotide Protein GERP++ PolyPhen2 Reference Control
SHJ4 CDH23 Homo (AR) 218 99 nonsynonymous SNV Chr10 NM_022124 Exon8 c.C719T* p.P240L* 5.19 Probably damaging rs1219083 (flagged)*  
SHJ23 MYO7A Compound hetero (AR) 82 99 Stopgain SNV Chr11 NM_000260 Exon 3 c.C52T p.Q18X 3.91 NA This study  
178 99 Stopgain SNV Chr11 NM_000260 Exon 18 c.C2115A p.C705X 3.03 NA This study  
SNUH59-133 (SHJ33) CDH23 Compound hetero (AR) 238 99 nonsynonymous SNV Chr10 NM_022124 Exon 8 c.C719T* p.P240L* 5.19 Probably damaging rs1219083 (flagged)*  
29 99 nonsynonymous SNV Chr10 NM_022124 Exon 37 c.C4853A p.T1618K 5.9 Probably damaging This study 0/276
SH62-147 (SHJ41) CDH23 Compound hetero (AR) 178 99 nonsynonymous SNV Chr10 NM_022124 exon42 c.G5747A p.R1916H 4.28 Probably damaging This study 0/276
237 99 nonsynonymous SNV Chr10 NM_022124 exon46 c.G6604A§ p.D2202N§ 5.06 Probably damaging rs121908349 (flagged)  
SNUH72-164 (SHJ52) PCDH15 Compound hetero (AR) 238 99 nonsynonymous SNV Chr10 NM_001142769 exon36 c.5035G > C p.V1679L 3.48 Damaging*** This study 0/276
250 99 Frameshift deletion Chr10 NM_001142763 exon23 c.2927delA p.Gln976Argfs*18 N/A NA This study  
SNUH91-202 (SHJ70) MYO15A Compound hetero (AR) 76 99 Stopgain SNV Chr17 NM_016239 exon2 c.G535T p.E179X 5.48 NA This study  
147 99 nonsynonymous SNV Chr17 NM_016239 exon10 c.G4252A p.G1418R 5.31 Probably damaging This study 0/276
SNUBH71-123 MYO15A Compound hetero (AR) 101 99 Splice donor variant Chr17 NM_016239 exon10 c.4320 + 1G > A   5.84 NA This study  
70 99 nonsynonymous SNV Chr17 NM_016239 exon46 c.T8396A p.L2799H 5.58 Probably damaging This study 0/276
SNUBH47-91** MYO3A Compound hetero (AR) 100 99 nonsynonymous Chr10 NM_017433 exon7 c.C580A p.P194T 4.30 Probably damaging [20]  
77 99 Frameshift insetion Chr10 NM_017433 exon16 c.1582_1583 insT p.Y530Lfs*9 N/A N/A [20]  
SNUH3-7** ACTG1 Singe hetero(AD) 30 99 nonsynonymous Chr17 NM_001199954 exon5 c.T914C p.M305T 4.05 Probably damaging [36]  
B) Possibly explained cases (n=2)
SNUH10-28 MYO7A Compound hetero (AR) 7 95 nonsynonymous SNV Chr11 NM_000260 exon23 c.C2724G p.D908E -8.53 Benign This study 0/276
    10 85 nonsynonymous SNV Chr11 NM_000260 exon29 c.C3701G p.T1234S 5.38 Possibly damaging This study 0/276
SHJ37 USH2A Compound hetero (AR) 238 99 nonsynonymous SNV Chr1 NM_206933 exon64 c.T14017C p.Y4673H 5.09 Probably damaging This study 0/276
237 99 nonsynonymous SNV Chr1 NM_206933 exon2 c.C419A p.P140H 2.26 Benign This study 0/276
C) Cases with only one probably pathogenic recessive allele (n=3)
SHJ3 OTOA AR 250 99 Frameshift Chr16 NM_170664, NM_001161683, NM_144672 exon7, exon12, exon16 c.792delC, c.1527delC, c.1764delC p.Gln589Argfs*55 NA NA This study  
SHJ16 MYO15A AR 72 99 Splice site Chr17 NM_016239 exon4 c.3756+1G>A NA 4.19 NA [37]  
SNUH53-118 MYO7A AR 185 99 Stopgain Chr11 NM_000260 exon19 c.C2254T p.Q752X 5.03 NA This study  
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