Open AccessWhole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
Author(s) -
James O’Sullivan,
Carolina Cavalcante Bitu,
Sarah B. Daly,
Jill Urquhart,
Martin Barron,
Sanjeev S. Bhaskar,
Hercílio MartelliJúnior,
Pedro Eleutério dos Santos Neto,
M. Adela Mansilla,
Jeffrey C. Murray,
Ricardo D. Coletta,
Graeme Black,
Michael J. Dixon
Publication year - 2011
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2011.04.005
Subject(s) - amelogenesis imperfecta , dbsnp , nonsense mutation , exome sequencing , ameloblast , osteogenesis imperfecta , genetics , biology , single nucleotide polymorphism , exome , dentinogenesis imperfecta , mutation , missense mutation , medicine , anatomy , gene , enamel paint , dentistry , genotype
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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