Table 3 Mutations in SLC7A7 gene

Family

1

2

3

4

5

6

Tested patient(s)

2, 14, 15

3, 4

16

8

10

12

Non tested related patients

1

5, 7

13

consanguinity

+

+

+

+

+

Mutation(s)

c.726G > A(p.Trp242*)

c.753G > C (p.Glu251Asp)

c.1185_1188deITTCT

c.726G > A(p.Trp242*)

c.254_255deITT

c.1417C > T (p.Arg473*)

c.1185 1188deITTCT^a

Publication(s)

Sperandeo et al, 2000

Mykkanen et al, 2000^a

Mykkanen et al, 2000

Sperandeo et al, 2000

Mykkanen et al, 2000

Mykkanen et al, 2000