Skip to main content

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 [921]
Autosomal dominant Ambn 4 14 n.d. n.d.
  Enam 4 14 no [14, 2227]
  Dlx3 17 10 no [28]
  Fam83h 8 7 n.d. [2934]
Autosomal recessive Enam 4 14 no [35, 36]
  Mmp20 11 8 no [26, 3739]
  Klk4 19 1 no [40]
  Wdr72 15 8 no [41]
  Fam20a 17 10 no [3, 4]
  1. an.d.: not determined.