Amelogenesis Imperfecta (AI) is a variable group of inherited conditions of toothenamel, in which both the quality and the quantity of enamel may be abnormal. AI mostly occurs in isolation of other health problems ("non-syndromic AI"), but can be associated with significant problems in other tissues or organs.
We aim to catalogue AI-causing mutations with an emphasis on those causing non-syndromic AI. Over time, we expect to add further genes as knowledge and insight increases. In this way, we hope to discover more about the types and frequencies of mutations that lead to AI with insight into the clinical consequences.
This database is curated and maintained by the AI Research Group at the University of Leeds.
If you wish to make a submission, please do not hesitate to contact us: Claire Smith firstname.lastname@example.org
The University of Leeds LOVD instance can be accessed here .
The curator will aim that the database and data within it are as accurate as possible for the benefit of the scientific community. This database is neither intended for clinical usage (including diagnosis or decisions about clinical care) nor informing decisions made by individuals unrelated to furthering scientific knowledge and understanding. Much of the data will be derived from research laboratories without confirmation by a clinically-accredited genetics service.
Unpublished mutations cannot be used in publications without consent of the submitter.