Table 5.

Previously Reported Pathogenic Variants Detected by Massively Parallel DNA Sequencing, Which Were Not Identified in the Invader and TaqMan Genotyping Assays

Gene name	Reported pathogenic mutation		Reference
Autosomal dominant inheritance mutations
ACTG1	NM_001199954:c.A353T:p.K118M		Zhu et al. (2003)
ACTG1	NM_001199954:c.G721A:p.E241K		Morín et al. (2009)
KCNQ4	NM_004700:c.C546G:p.F182L		Su et al. (2007)
KCNQ4	NM_004700:c.C546G:p.F182L		Su et al. (2007)
KCNQ4	NM_004700:c.C546G:p.F182L		Su et al. (2007)
MYH9	NM_002473:c.G2114A:p.R705H		Dong et al. (2005)
TECTA	NM_005422:c.C5597T:p.T1866M		Sagong et al. (2010)
WFS1	NM_001145853:c.G1846T:p.A616S		Liu et al. (2005)
WFS1	NM_001145853:c.G2185A:p.D729N		Domènech et al. (2002)
WFS1	NM_001145853:c.G2590A:p.E864K		Eiberg et al. (2006)

Gene name	Reported pathogenic mutation	Novel mutation found by MPS	Reference
Autosomal recessive inheritance mutations
CDH23	NM_001171930:c.C805T:p.R269W	NM_001171933:c.C2407T:p.R803W	Oshima et al. (2006)
MYO7A	NM_000260:c.G635A:p.R212H	NM_000260:c.G3475A:p.G1159S	Weil et al. (1997)
MYO15A	NM_016239:c.G6731A:p.G2244E	NM_016239:c.6457delG:p.A2153fs	Nal et al. (2007)
SLC26A4	NM_000441:c.T2228A:p.L743X	NM_000441:c.C1208A:p.A403D	Yuan et al. (2009)

Among the autosomal recessive causative genes, only the reported pathogenic variants with other mutation candidates in the same genes detected by MPS were listed.