Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

Table 2

Mutations identified in the cohort of 5 families.

Family ID	Gene	DFN locus	Chromosome	Exon	Nucleotide change	Amino acid change	Zygosity	Pathogenic	Polyphen2	SIFT	Novel or HGMD
R1	TRIOBP	DFNB28	22	7	c.2581C>T		Heterozygous	Pathogenic	—	—	Reported
	TRIOBP	DFNB28	22	7	c.3089delC		Heterozygous	Pathogenic	—	—	Novel
R2	LHFPL5	DFNB67	6	1	c.269 C>G	p.P90R	Homozygous	Uncertain significance	1	0	Novel
R3	CDH23	DFNB12	10	22	c.2432G>A	p.G811D	Heterozygous	Uncertain significance	1	—	Novel
	CDH23	DFNB12	10	65	c.9389_9390delCT		Heterozygous	Pathogenic	—	—	Novel
R4	PCDH15	DFNB23	10	23	c.2758 C>T		Homozygous	Pathogenic	—	—	Novel
R5	MYO7A	USH1B	11	20	c.2361C>A		Homozygous	Pathogenic	—	—	Novel