amelogenesis imperfecta type 2A1

Amelogenesis imperfecta type 2A1 is an inherited dental condition characterized by abnormal enamel formation. This disorder is caused by mutations in the KLK4 gene, which plays an essential role in enamel mineralization. Affected individuals typically exhibit teeth with yellow to brown discoloration and reduced enamel hardness, with symptoms becoming noticeable during childhood. While specific prevalence data is not available, the clinical features are consistently observed in those affected.

The hallmark features include generalized defects in enamel, yellow-brown discoloration of the teeth, and enamel hypomineralization, all of which are invariably present. In addition, some individuals may develop an anterior open-bite malocclusion. Early dental abnormalities commonly prompt a clinical evaluation during childhood. Not all individuals experience every feature, and severity varies considerably.

Amelogenesis imperfecta type 2A1 results from mutations in the KLK4 gene, which encodes an enzyme critical for the normal breakdown and mineralization of dental enamel. It is inherited in an autosomal recessive pattern, meaning that an affected individual inherits one mutated copy of the gene from each parent. Families are encouraged to seek genetic counseling to better understand the recurrence risks and implications for future family planning.

Currently, management focuses on supportive care and symptom management tailored to individual needs. A multidisciplinary team of dental specialists typically provides treatment through restorative procedures and regular dental care to address the enamel defects. Genetic counseling is recommended to offer guidance for families and to discuss appropriate management strategies with the healthcare team.

Amelogenesis imperfecta type 2A1 is a lifelong condition that affects how teeth form and function due to abnormal enamel. With regular dental check-ups and modern treatments, many individuals enjoy healthy teeth and a good quality of life. Outcomes described in medical literature continue to evolve as standards of care improve. Because treatment options can vary, consulting dental specialists and genetic counselors can be helpful. Families may also benefit from support groups that offer valuable advice and shared experiences during treatment and decision-making.