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Table 1 Causative genes of amelogenesis imperfecta

From: Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta

Inheritance pattern

Gene

Human chromosome

Rat chromosome

Mutation in AMI

Reference in human

X-linked

Amelx

X

X

n.d. a

[9–21]

Autosomal dominant

Ambn

4

14

n.d.

n.d.

 

Enam

4

14

no

[14, 22–27]

 

Dlx3

17

10

no

[28]

 

Fam83h

8

7

n.d.

[29–34]

Autosomal recessive

Enam

4

14

no

[35, 36]

 

Mmp20

11

8

no

[26, 37–39]

 

Klk4

19

1

no

[40]

 

Wdr72

15

8

no

[41]

 

Fam20a

17

10

no

[3, 4]

  1. an.d.: not determined.