Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene

Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene

The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence ...

A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a hereditary disease with abnormal dental enamel formation. Here we report a Japanese family with X-linked AI transmitted over at least four generations. Mutation analysis revealed a novel mutation (p.P52R) in exon 5 of the amelogenin gene. The mutation was detected as heterozygous in affected females and as hemizygous in their affected father. The affected siste...

Active - site Mutation in Hypomaturation Amelogenesis Imperfecta

[Amelogenesis imperfecta].

Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta Braz Dent J 2016; 27(3): 359-362 Oral Health-Related Quality of Life Before and After Crown Therapy in Young Patients with Amelogenesis Imperfecta Health Qual Life Outcomes 2015; (13): 197 Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year Case Rep Dent (2015) Art ID 57916...

Amelogenesis imperfecta

Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. The prevalence varies from 1:700 to 1:14,000, according to the populations studied. Th...