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

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.

Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature.

Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of consanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a nephrologist, if appropriate. Children with nephrocalcinosis should also be considered for a dental check.

Greater access to information on how to prevent oral cancer among elderly using primary health care.

Educative actions are an important component of health promotion in Brazil's primary healthcare program, the Family Health Strategy (FHS). The efficacy of these actions is evidenced by compliance with healthy behaviors and in the reduction of rates of mortality and morbidity. The objective of this study was to identify whether access to information regarding the prevention of oral cancer is greater among elders whose residences are registered with the FHS. SPSS® was utilized to obtain estimates that were corrected for sample design, considering the magnitude of the associations between access to such information with personal determinants, the use and cost of healthcare, health-related behaviors and health outcomes. 58.9% of the 492 participating elders reported having access to such information. We verified that there was a greater chance for access among residents of houses registered by the FHS; those with greater per capita income (2.01/1.183.43); non-smokers (2.00/1.16-3.46); those that realized oral self-examination (6.35/3.46-11.64); and those that did not perceive discomfort in the mouth, head or neck (2.06/1.02-4.17). Access was greater among residents of homes registered by the FHS. Personal determinants of health, health-related behaviors and health outcomes are influenced or influence access to information regarding the prevention and management of oral diseases.