Table 5. Genes suggested from exome sequencing studies.
| Inheritance | Locus | Region | Gene | Mutation | Reference |
|---|---|---|---|---|---|
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.S672G |
(Shi et al., 2011; Jiang et al., 2014) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.R680G |
(Shi et al., 2011) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.C699Y |
(Shi et al., 2011) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.T242M |
(Tran-Viet et al., 2012) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.E274V |
(Tran-Viet et al., 2012) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.T401A |
(Xiang et al., 2014) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.E1278G |
(Xiang et al., 2014) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.R683T |
(Jiang et al., 2014) |
| AD |
MYP21 |
1p22.2 |
ZNF644 |
p.D851H |
(Jiang et al., 2014) |
| AD |
MYP25 |
5q31.1 |
P4HA2 |
p.E291K |
(Guo et al., 2015) |
| AD |
MYP25 |
5q31.1 |
P4HA2 |
p.K443* |
(Guo et al., 2015) |
| AD |
MYP25 |
5q31.1 |
P4HA2 |
p.Q140R |
(Guo et al., 2015) |
| AD |
MYP25 |
5q31.1 |
P4HA2 |
p.I150V |
(Guo et al., 2015) |
| AD |
MYP25 |
5q31.1 |
P4HA2 |
p.R451Gfs*8 |
(Guo et al., 2015) |
| AD |
MYP24 |
12q13.3 |
SLC39A5 |
p.Y47* |
(Guo et al., 2015) |
| AD |
MYP24 |
12q13.3 |
SLC39A5 |
p.M304T |
(Guo et al., 2015) |
| AD |
MYP24 |
12q13.3 |
SLC39A5 |
p.G413A |
(Jiang et al., 2014) |
| AD |
Unknown |
22q13.33 |
SCO2 |
p.R112W |
(Jiang et al., 2014) |
| AD |
Unknown |
22q13.33 |
SCO2 |
p.R120W |
(Jiang et al., 2014) |
| AD |
Unknown |
22q13.33 |
SCO2 |
p.Q53* |
(Yanovitch et al., 2013) |
| AD |
Unknown |
22q13.33 |
SCO2 |
p.R114H |
(Yanovitch et al., 2013) |
| AD |
Unknown |
22q13.33 |
SCO2 |
p.E140K |
(Yanovitch et al., 2013) |
| AD |
Unknown |
22q13.33 |
SCO2 |
p.A259V |
(Yanovitch et al., 2013) |
| AR |
Unknown |
3q28 |
LEPREL1 |
p.G508V |
(Mordechai et al., 2011) |
| AR |
Unknown |
3q28 |
LEPREL1 |
p.Q5* |
(Guo et al., 2014) |
| AR |
MYP23 |
4p16.3 |
LRPAP1 |
p.N202Tfs∗8 |
(Aldahmesh et al., 2013) |
| AR |
MYP23 |
4p16.3 |
LRPAP1 |
p.I288Rfs∗118 |
(Aldahmesh et al., 2013) |
| AR |
MYP23 |
4p16.3 |
LRPAP1 |
p.Q67Sfs*8 |
(Jiang et al., 2014) |
| AR |
MYP23 |
15q25.1 |
CTSH |
p.L162Pfs*66 |
(Aldahmesh et al., 2013) |
| X-linked |
MYP1 |
Xq28 |
OPN1LW |
LVAVA haplotype |
(Li et al., 2015) |
| X-linked |
Unknown |
Xq13.1 |
ARR3 |
p.L80P |
(Xiao et al., 2016) |
| X-linked |
Unknown |
Xq13.1 |
ARR3 |
p.R100* |
(Xiao et al., 2016) |
| X-linked |
Unknown |
Xq13.1 |
ARR3 |
p.A298D |
(Xiao et al., 2016) |
| De Novo |
Unknown |
19p13.3 |
BSG |
p.G297S |
(Jin et al., 2017) |
| De Novo |
Unknown |
19p13.3 |
BSG |
p.P221S |
(Jin et al., 2017) |
| De Novo |
Unknown |
19p13.3 |
BSG |
p.Q69X |
(Jin et al., 2017) |
| De Novo | Unknown | 19p13.3 | BSG | pc.415+1G>A | (Jin et al., 2017) |