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Abstract:
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Amelogenesis imperfecta is a group of genetic conditions that affect the
structure and clinical appearance of tooth enamel. The types (hypoplastic, hypocalcified,
and hypomature) are correlated with defects in different stages of the
process of enamel synthesis. Autosomal dominant, recessive, and X-linked types
have been previously described. These disorders are considered clinically and
genetically heterogeneous in etiology, involving a variety of genes, such as AMELX,
ENAM, DLX3, FAM83H, MMP-20, KLK4, and WDR72. The mutations identified
within these causal genes explain less than half of all cases of amelogenesis imperfecta.
Most of the candidate and causal genes currently identified encode proteins
involved in enamel synthesis. We think it is necessary to refocus the search for
candidate genes using biochemical processes. This review provides theoretical
evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a
new candidate gene. |