View of FAM20A Mutation in a Patient with Enamel-Renal-Gingival Syndrome: A Case Report

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Keywords:FAM20A LDKNFDMDRHRHLODQEDBS@&HMFHU@KGXODQOK@RH@-DOGQNB@KBHMNRHR

*Master Student, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University

**Professor, Department of Oral Biology and Diagnostic Science, Faculty of Dentistry, Chiang Mai University

***Professor, Department of Medical Genetics, Medical faculty, Istanbul University

****Research assistant, Department of Pedodontics, Istanbul Dental Faculty, Istanbul University

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Figure 1. A-B) Oral photographs of the patient at age 11 years. Teeth affected with amelogenesis imperfecta, hypolplastic type, prolonged retention and infraclusion of primary

teeth, and gingival fibromatosis. C) Panoramic radiograph shows generalized absence of enamel, delayed eruption of permanent teeth, intrapulpal calcification and multiple unerupted teeth surrounded by large dental follicles with sclerotic borders (arrow heads). The unerupted

mandibular permanent second molars appear to lie on the lowerborder of the mandible (arrows). D) Exon 10 sequence revealing a homozygous missense mutation (NM_017565.3:

c.1307G>A; g.61999G>A; p.Gly436Glu). E) Alignment of the FAM20A protein sequences from the human (Homo sapiens), gorilla (Gorilla gorilla), house mouse (Mus musculus), cattle (Bos taurus), rock pigeon (Columba livia) and zebra fish (Danio rerio) species using the Clustal W 2.0 multiple sequence alignment program. Stars = these positions contain identical amino acid

residues in all sequences. The frame in Fig. 1E shows only the amino acid, glycine(G), in all type of vertebrates but in our patient this was changed to glutamic acid(E).

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