Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Table 2 Mutations identified in 7 families

Family ID	Gene	DFN locus	Nucleotide change	Variation type	Amino acid change	Chromosome/exon	Mutation taster	PROVEAN^a	SIFT^b	Allele frequency in controls	Novel or HGMD
Dominant
JSNY-021	WFS1	DFNA6/14/38	c.2036_2038	In-frame indel	p.E680del	4/8	DC^c	-	-	0.00	Novel
JSNY-021	WFS1	DFNA6/14/38	delAGG	In-frame indel	p.E680del	4/8	DC^c	-	-	0.00	Novel
JSNY-027	COCH	DFNA9	c. 113G > A	Missense	p.G38D	14/4	DC	−1.431	0.00	0.00	Novel
JSNY-033	WFS1	DFNA6/14/38	c.1957C > T	Missense	p.R653C	4/8	DC	−3.501	0.98	0.00	Awata et al. [14]
JSNY-043	ACTG1	DFNA20/26	c.946G > A	Missense	p.E316K	17/5	DC	−2.648	0.01	0.00	Novel
JSNY-053	TMC1	DFNA36	c.1714G > A	Missense	p.D572N	9/19	DC	−2.499	0.21	0.00	Kurima et al. [15]
JSNY-056	POU4F3	DFNA15	c.491 C > G	Missense	p.P164R	5/2	DC	−2.112	0.34	0.00	Novel
Recessive
JSNY-045	USH2A	1q41	c.5051G > A	Missense	p.P1684L	1/25	DC	−4.567	0.00	0.00	Novel

^aNegative and positive scores indicate deleterious and neutral, respectively, with cut-off score set at −1.3; ^bScore ranges from 0 (deleterious) to 1 (neutral), with cut-off score set at 0.05. ^cDC: Disease causing.

ISSN: 1479-5876