Skip to main content
. Author manuscript; available in PMC: 2015 Oct 23.
Published in final edited form as: Orthod Craniofac Res. 2009 Aug;12(3):212–220. doi: 10.1111/j.1601-6343.2009.01455.x

Table 2.

Summary of genetic diseases with genes identified as etiologic for each

Clinical disease Etiologic Gene/OMIM* Chromosomal location of gene
Amelogenesis imperfecta Enamelin (ENAM ) OMIM606585 4q21
Kallikrein 4 (KLK4) OMIM603767 19q13.4
Matrix Metalloproteinase 20 (MMP20) OMIM604629 11q22.3-q23
Family with sequence similarity, member H (FAM83H) OMIM611927 8q24.3
Amelogenin (AMELX) OMIM300391 Xp22.3-p22.1
Dentinogenesis imperfecta Dentin sialophosphoprotein (DSPP) OMIM125485 4q21.3
Osteogenesis imperfecta/dentinogenesis imperfecta Collagen type1 A1 (COL1A1) OMIM120150 17q21.31-q22
Osteogenesis imperfecta/dentinogenesis imperfecta Collagen type1 A2 (COL1A2) OMIM120160 7q22.1
Papillon Lefèvre syndrome Cathepsin C (CTSC ) OMIM602365 11q14.1-q14.3
Hereditary gingival fibromatosis Son of sevenless-1 (SOS-1) OMIM182530 2p22-p21
*

Online Mendelian Inheritance in man catalogue number (1).