Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome |
| |
| Authors: | O'Sullivan James Bitu Carolina C Daly Sarah B Urquhart Jill E Barron Martin J Bhaskar Sanjeev S Martelli-Júnior Hercilio dos Santos Neto Pedro Eleuterio Mansilla Maria A Murray Jeffrey C Coletta Ricardo D Black Graeme C M Dixon Michael J |
| |
| Institution: | 1Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UK;2Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK;3Department of Oral Diagnosis, School of Dentistry, State University of Campinas, CEP 13414-018, Piracicaba, São Paulo, Brazil;4Stomatology Clinic, Dental School, University of Montes Claros, 39401-089, CP 126, Montes Claros, Minas Gerais, Brazil;5Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ |
|
