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Objective  Hereditary defects in tooth enamel formation, amelogenesis imperfecta ( AI ), can be non‐syndromic or syndromic phenotype. Integrins are signaling proteins that mediate cell–cell and cell–extracellular matrix communication, and their involvement in tooth development is well known. The purposes of this study were to identify genetic cause of an  AI  family and molecular pathogenesis underlying defective enamel formation.    Materials and Methods  We recruited a Turkish family with isolated  AI  and performed mutational analyses to clarify the underlying molecular genetic etiology.    Results  Autozygosity mapping and exome sequencing identified a novel homozygous   ITGB 6  transversion mutation in exon 4 (c.517G>C, p.Gly173Arg). The glycine at this position in the middle of the  β I‐domain is conserved among a wide range of vertebrate orthologs and human paralogs. Clinically, the enamel was generally thin and pitted with pigmentation. Thicker enamel was noted at the cervical area of the molars.    Conclusions  In this study, we identified a novel homozygous   ITGB 6  mutation causing isolated  AI , and this advances the understanding of normal and pathologic enamel development.

Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta