Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11-02-2009
Symbol DGI1
Location 4q22.1
Name dentinogenesis imperfecta 1
Other name(s)
  • dentinogenesis imperfecta type II (putative defect of DSPP), Shields type,
  • Capdepont teeth syndrome
    • Corresponding gene DSPP
    Other symbol(s) DGI2
    Main clinical features opalescent dentin associated or not with progressive hearing loss
    Genetic determination autosomal dominant
    Prevalence 1 in 6000 to 8000 children
    Related entries including dentinogenesis imperfecta type III (DGI3)
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name dentin sialophosphoprotein (DSPP)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown c.52G-->T, p.V18F at the first nucleotide of exon 3
    nonsense   truncated protein c.133CT
    Remark(s)