Table 3 Mutations in the SLC6A8 gene

c.321_323delCTT

p.F107del

2 ^a

-

Degrauw et al., 2002[64]

c.778-2A > G

p.(?)

1

-

Betsalel et al., 2011[61]

c.926C > A

p.A309E

1

-

This study

c.930delG

p.T311PfsX85

1

-

This study

c.942_944delCTT

p.F314del

-

1

Fons et al., 2009[65]

c.1006_1008delAAC

p.N336del

1

-

Clark et al., 2006[56]

c.1208C > A

p.A403D

1

-

This study

c.1393-1G > A

p.(?)

2 ^a

-

This study

c.1519_1543del

p.I507LfsX5

1

-

Betsalel et al., 2011[61]