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"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
Anne-Laure Bonnet1,2, Kevin Sceosole3, Arabelle Vanderzwalm3
1Université de Paris, EA2496, Montrouge, Paris F-92120, France.
Case Reports in Genetics
|August 25, 2020
Summary
Amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel quality. Genetic analysis in a family revealed a DLX3 variant, aiding diagnosis and differentiating syndromic from isolated AI.
Area of Science:
- Dentistry
- Genetics
- Rare Diseases
Background:
- Amelogenesis imperfecta (AI) encompasses rare genetic disorders impacting tooth enamel quantity or quality.
- AI presents a broad clinical spectrum, from subtle discoloration to severe structural defects causing pain and affecting quality of life.
- Genetic mutations are linked to both nonsyndromic AI and syndromic forms.
Observation:
- This case report details a family with severe dental anomalies evaluated at Louis Mourier Hospital.
- The proband and mother were diagnosed with AI, with genetic testing identifying a known variant in the DLX3 gene.
- Further examination suggested potential tricho-dento-osseous syndrome in the family.
Findings:
- Genetic analysis confirmed a DLX3 variant in the affected family members.
- The findings underscore the diagnostic challenges of Amelogenesis imperfecta, particularly in adults.
- Accurate molecular diagnostics are crucial for distinguishing isolated AI from syndromic presentations.
Implications:
- This case highlights the importance of genetic testing in diagnosing complex dental anomalies like AI.
- Distinguishing between syndromic and isolated AI is critical for appropriate patient management and genetic counseling.
- Improved diagnostic tools can enhance the understanding and treatment of rare genetic tooth disorders.
