Amelogenesis imperfecta, type IG (enamel-renal syndrome)
OMIM:204690Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the digestive system
Mutations
| Gene Symbol | FAM20A |
|---|---|
| Reference transcript | NM_017565.3 |
| DNA Change | c.34_35delCT |
| A.A. Change | p.Leu12Alafs*67 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Cherkaoui Jaouad I, El Alloussi M, Chafai E Alaoui S, Laarabi FZ, Lyahyai J, Sefiani.
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report. BMC Oral Health. 2015 Jan 30;15:14. |