Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Table 2 Genes with very rare predicted pathogenic variants in more than one person

Number of individuals	Genes
12	MON1B
11	TTN
8	ADC	NEFH	ZAN
7	DNAH2	*GPR98*	LRBA	*PAX2*
6	CHD3	DNAH3	MACF1	PTGER4	UBE2O	NEB
	WDR19	ZMIZ2
5	VWA5B1	DNAH8	HSPG2	DNAH1	CELSR3	PCNX
	DNAH7	PKHD1L1	*TECTA*	ATG2A	ATM	RANBP17
	*LRIG3*	DNAH9	HECTD4	OBSCN	VPS13B	FAT2
	*LAMA2*	CAPN5	*CDH23*	WDR41
4	*DMD*	*DUOX2*	*RBPJ*	*USH2A*	*MYO6*	+52 ^a
3	*COL11A1*	*NAV2*	*CPXM2*	*COL4A4*	*LRP2*	*MY015A*
	*MYH9*	*TSPEAR*	*ACAN*	*PCDH15*	*OTOG*	+160 ^a
2	*WFS1*	*MECOM*	*NTN1*	*GJB2*	*TCOF1*	*COL11A2*
	*CELSR1*	*SLC9A3R1*	*COL9A1*	*TJP2*	*ALMS1*	*JAG1*
	*ATP2B2*	*SLC26A4*	*LRIG1*	*LOXHD1*	*CHRNA9*	*RDX*
	*CHD7*	*NTF3*	*ELMOD3*	*SLC4A7*	*ATP8B1*	*NPC1*
	*KARS*	*ERCC6*	+745 ^a

Details of genes found to be mutated in multiple samples. Known deafness genes are in bold, and candidates for exclusion are underlined.
^aNumber of additional non-deafness genes with variants; only known deafness genes shown for these lists

ISSN: 1755-8794