A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Table 1

Genotype of SNPs in chromosome 3 for probands F1-II-1 and F2-II-1.

dbSNP	Chromosome	Position	Gene	Genotype		MAF in Chinese Hans
				F1-II-1	F2-II-1
rs78962087	3p13	70014199	MITF	C/A	C/C	0.0021
rs2306522	3p21.31	45542083	LARS2	T/T	T/C	0.1413
rs11549809	3p21.31	45557707	LARS2	G/A	G/G	0.1413
rs10578999	3p21.31	46751073	TMIE	TAAG/T	T/T	0.7314
p.G141R	3q13.33	121720670	ILDR1	G/G	G/G	0
rs2877561	3q13.33	121712051	ILDR1	C/C	A/A	0.6304
rs16846663	3q25.1	150658264	CLRN1	G/A	G/G	0
rs187218889	3q25.1	150690487	CLRN1	G/T	G/G	0.0057
rs3796240	3q25.1	150690566	CLRN1	T/T	C/C	0.0630
rs188384	3q28	191074873	CCDC50	G/G	C/C	0.6435
rs11542549	3q28	191075902	CCDC50	C/T	C/C	0.1652
rs2028573	3q28	191093080	CCDC50	A/A	G/G	0.1500
rs4677728	3q28	191093310	CCDC50	A/G	A/A	0.0783
rs4677729	3q28	191093384	CCDC50	A/A	G/G	0.0152
rs188384	3q28	191094873	CCDC50	G/G	C/C	0.6434
rs34031057	3q28	191097928	CCDC50	G/G	G/GT	0.0109
rs7624750	3q29	193334991	OPA1	G/A	G/G	0.2457
rs166850	3q29	193355074	OPA1	C/C	T/T	0.6739
rs10451941	3q29	193355102	OPA1	T/C	T/T	0.2000
rs9851685	3q29	193374964	OPA1	T/C	T/T	0.2326
rs3772393	3q29	193336639	OPA1	T/C	T/T	0.2000