Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

摘要: Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders biomineralization resulting from failure normal enamel formation. AI is found as an isolated entity or part syndrome, autosomal-recessive syndrome associating gingival hyperplasia was recently reported. Using whole-exome sequencing, we identified homozygous nonsense mutation in exon 2 FAM20A that not present the Single Nucleotide Polymorphism database (dbSNP), 1000 Genomes database, Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. Expression analyses indicated Fam20a expressed ameloblasts gingivae, providing biological plausibility for mutations underlying pathogenesis this syndrome.