Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 88, Issue 5, Pages 616-620Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2011.04.005
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Funding
- Wellcome Trust [075945, 093113]
- National Institute for Health Research Manchester Biomedical Research Centre
- State Minas Gerais Research Foundation (Fundacao de Amparo a Pesquisa do Estado de Minas Gerais)
- Brazil National Council for Scientific and Technological Development (CNPq)
- Fundacao Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior), Brazil
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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.
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