A Recurrent <i>FAM83H</i> Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

• Main Authors: Camila Alvarez (Author), María Andrea Aragón (Author), Yejin Lee (Author), Sandra Gutiérrez (Author), Patricia Méndez (Author), Dabeiba Adriana García (Author), Liliana Otero (Author), Jung-Wook Kim (Author)
• Format: Book
• Published: MDPI AG, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations in the <i>FAM83H</i> gene are responsible for the autosomal-dominant hypocalcified AI. In this study, we recruited a four-generation Colombian family with hypocalcified AI and identified a recurrent nonsense mutation in the <i>FAM83H</i> gene (NM_198488.5:c.1289C>A, p.(Ser430 *)) by candidate gene sequencing. Cephalometric analyses revealed the anterior open bite that occurred in the proband is not correlated with the AI in this family.

Item Description

10.3390/children9030362
2227-9067