Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

James O'Sullivan, Carolina C. Bitu, Sarah B. Daly, Jill Urquhart, Martin J. Barron, Sanjeev S. Bhaskar, Hercilio Martelli-Júnior, Pedro Eleuterio Dos Santos Neto, Maria A. Mansilla, Jeffrey C. Murray, Ricardo D. Coletta, Graeme C M Black, Michael J. Dixon

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. Expression analyses indicated that Fam20a is expressed in ameloblasts and gingivae, providing biological plausibility for mutations in FAM20A underlying the pathogenesis of this syndrome. © 2011 The American Society of Human Genetics.
    Original languageEnglish
    Pages (from-to)616-620
    Number of pages4
    JournalAmerican Journal of Human Genetics
    Volume88
    Issue number5
    DOIs
    Publication statusPublished - 13 May 2011

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