RGD Reference Report - Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

Authors: Rajpar, MH  Harley, K  Laing, C  Davies, RM  Dixon, MJ 
Citation: Rajpar MH, etal., Hum Mol Genet. 2001 Aug 1;10(16):1673-7.
RGD ID: 1598908
Pubmed: (View Article at PubMed) PMID:11487571

Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11-q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11-q21, these findings highlight the need for a molecular classification of this group of disorders.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Enam  (enamelin)

Genes (Mus musculus)
Enam  (enamelin)

Genes (Homo sapiens)
ENAM  (enamelin)


Additional Information