Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

Table 7 Novel GJB6 variants observed in DXD and DXN families

S. No.	GJB6 Variants		Domain/ Location	Effect	Alleles in DXD (n=170)*	Alleles in DXN (n=64)*	Overall Allelic Frequency (%)
S. No.	Codon	Protein	Domain/ Location	Effect	Alleles in DXD (n=170)*	Alleles in DXN (n=64)*	Overall Allelic Frequency (%)
1	c.311 G>A	p.R104H	IC2	Missense mutation; Transition; NOVEL; Possibly pathogenic	2 (1.18%)	0	0.85%
2	c.170 A>G	p.Q57R	EC1	Missense mutation; Transition; NOVEL; Possibly pathogenic	1 (0.59%)	0	0.43%
3	c.301 G>C	p.E101Q	IC2	Missense mutation; Transversion; NOVEL; Possibly pathogenic	0	1 (1.56%)	0.43%

* HI mates with novel variants in the GJB2 gene, heterozygous carriers of pathogenic mutations in the GJB2 gene or negative for pathogenic GJB2 mutations were included for GJB6 mutation screening

ISSN: 1471-2350