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Table 2 Details of DFNB1 patients in our cohort with cochlear implantation

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

Patient Gene Inheritance Mutation type Gene bank No. Chr Exon Nucleotide Protein dbSNP137/reference
SHJ2 GJB2 Compound hetero frameshift deletion frameshift deletion NM_004004 NM_004004 13 13 2 2 c.176_191del c.235delC p.Gly59Alafs×18 p.Leu79Cysfs×3 [35] rs80338943
SHJ12 GJB2 Compound hetero nonsynonymous SNV nonsynonymous SNV NM_004004 NM_004004 13 13 2 2 c.109G > A c.C427T p.V37I p.R143W rs72474224 rs80338948
SHJ18 GJB2 Homozygote nonsynonymous SNV NM_004004 13 2 c.C427T p.R143W rs80338948
SHJ31 GJB2 Compound hetero frameshift deletion NM_004004 13 2 c.176_191del p.Gly59Alafs×18 [35]
frameshift deletion NM_004004 13 2 c.235delC p.Leu79Cysfs×3 rs80338943
SHJ36 GJB2 Homozygote frameshift deletion NM_004004 13 2 c.35delG p.Gly12Valfs×2 rs80338939
SHJ68 GJB2 Homozygote frameshift deletion NM_004004 13 2 c.235delC p.Leu79Cysfs×3 rs80338943
SNUH60-136 GJB2 Single heterozygote nonsynonymous SNV NM_004004 13 2 c.C427T p.R143W rs80338948
SNUH70-160 GJB2 Compound hetero frameshift deletion nonsynonymous SNV NM_004004 NM_004004 13 13 2 2 c.235delC c.C427T p.Leu79Cysfs×3 p.R143W rs80338943 rs80338948
SNUH79-180 GJB2 Homozygote frameshift deletion NM_004004 13 2 c.235delC p.Leu79Cysfs×3 rs80338943
SNUBH91-166 GJB2 Compound hetero frameshift deletion nonsynonymous SNV NM_004004 NM_004004 13 13 2 2 c.235delC c.C427T p.Leu79Cysfs×3 p.R143W rs80338943 rs80338948