FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?

FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?

Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of enamel peptides and thus enamel mineralization. Here, we characterized the structure and chemical composition of unerupted tooth enamel from ERS patient...

Loss of FAM20A protein induces Amelogenesis Imperfecta in mice

FAM20A is a member of family of related proteins that has been named family with sequence similarity 20 (FAM20) with three members (FAM20A, FAM20B and FAM20C) in mammals. Recently, some studies have reported that patients with Amelogenesis Imperfecta caused by FAM20A mutation displayed several dental phenotypes including hypoplastic enamel, failure of tooth development and gingival hyperplasia....

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report

BACKGROUND Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure and clinical appearance of enamel. Amelogenesis imperfecta occurred as an isolated trait or as part of a genetic syndrome. Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome as...

Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene

The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence ...

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