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Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta
Author(s) -
Seymen F,
Lee KE,
Koruyucu M,
Gencay K,
Bayram M,
Tuna EB,
Lee ZH,
Kim JW
Publication year - 2015
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12303
Subject(s) - amelogenesis imperfecta , mutation , exome sequencing , genetics , biology , phenotype , amelogenesis , enamel organ , enamel paint , ameloblast , medicine , gene , dentistry
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.