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

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

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]
SHJ31	GJB2	Compound hetero	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

ISSN: 1750-1172