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

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.

SUBMITTER: O'Sullivan J 

PROVIDER: S-EPMC3146735 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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

O'Sullivan James J   Bitu Carolina C CC   Daly Sarah B SB   Urquhart Jill E JE   Barron Martin J MJ   Bhaskar Sanjeev S SS   Martelli-Júnior Hercilio H   dos Santos Neto Pedro Eleuterio PE   Mansilla Maria A MA   Murray Jeffrey C JC   Coletta Ricardo D RD   Black Graeme C M GC   Dixon Michael J MJ  

American journal of human genetics 20110505 5

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 (dbSN  ...[more]

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