A novel AMELX mutation causes hypoplastic amelogenesis imperfecta

作者：Kim Young Jae; Kim Youn Jung; Kang Jenny; Shin Teo Jeon; Hyun Hong Keun; Lee Sang Hoon; Lee Zang Hee; Kim Jung Wook^*

来源：Archives of Oral Biology, 2017, 76: 61-65.

DOI：10.1016/Larchoralbio.2017.01.004

• AMELX
• Amelogenesis imperfecta
• X-linked
• Enamel
• Pre-mRNA splicing

Objectives: Amelogenesis imperfecta (AI) is a hereditary genetic defect affecting tooth enamel. Al is heterogeneous in clinical phenotype as well as in genetic etiology. To date, more than 10 genes have been associated with the etiology of Al. Amelogenin is the most abundant enamel matrix protein, most of which is encoded by the amelogenin gene in the X-chromosome (AMELX). More than 16 alternative splicing transcripts have been identified in the murine Amelx gene. The purpose of this study was to identify the genetic cause of an AI family.
Materials and methods: We recruited a family with hypoplastic AI and performed mutational analysis on the candidate gene based on the clinical phenotype.
Results: Mutational analysis revealed a missense mutation in exon 6 (NM_182680.1; c.242C > T), which changes a sequence in a highly conserved amino acid (NP_872621.1; p.Pro81Leu). Furthermore, a splicing assay using a minigene displayed that the mutation changed the mRNA splicing repertory.
Conclusions: In this study, we identified a novel AMELX missense mutation causing hypoplastic AI, and this mutation also resulted in altered mRNA splicing. These results will not only expand the mutation spectrum causing AI but also broaden our understanding of the biological mechanism of enamel formation.

• 出版日期2017-4