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What is amelogenesis imperfecta and how is related to defects in genetic coding for proteins
Inherited enamel defects that occur in the absence of
a generalized syndrome are collectively designated as
amelogenesis imperfecta (AI). Hu et al. (University of
Michigan School of Dentistry) review the major stages of
enamel biomineralization and explain how defects in the
genes encoding enamel proteins or proteases can induce
the various phenotypic patterns (hypoplasia, hypocalcification,
and hypomaturation) associated with inherited
enamel defects. While most of the genes involved in the
full spectrum of AI are unknown, recent advances show
that defects in AMELX cause X-linked AI, ENAM defects
cause autosomal dominant AI, and defects in the enamel
protease genes MMP20 and KLK4 cause autosomal recessive
pigmented hypomaturation AI.
Sources:
- Molecular Evolution and Genetic Defects of Teeth, Cells Tissues Organs, 2007