Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology
Oral and maxillofacial pathologyPhenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta
Section snippets
Methods
This study was approved by the Institutional Review Board, with all study participants providing informed consent prior to entry in the study. Nine families were identified as having children with clinical manifestations consistent with a diagnosis of AI. The parents in all families showed neither clinical nor radiographic evidence of AI. None of the affected children showed clinical abnormalities involving the skin, hair, fingernails, or other systems that would suggest a syndrome-associated
Results
Nine Jordanian families were ascertained through affected probands with AI. Detailed dental evaluation of the probands, their parents and siblings revealed multiple affected children in 7 of the families. None of the parents showed evidence of AI (Fig 1). There were 20 affected and 41 unaffected offspring in the 9 families. After correction for proband ascertainment bias, the ratio of affected to unaffected siblings was found to be 1:4, consistent with autosomal recessive inheritance. Parental
Discussion
The detailed characterization of ARAI in 9 families illustrates the inadequacy of current classification systems predicated on delineating AI cases based first on phenotype and then by mode of inheritance. With the identification of genetic alterations responsible for dominant forms of AI, there is increased interest in identifying those genes responsible for recessive forms of the disease. The lack of a comprehensive classification system is problematic for studies of ARAI. Molecular-based
Conclusion
Detailed phenotypic characterization of multiple families segregating for ARAI show tremendous diversity in clinical presentation of this condition. This diversity extends beyond the clinical presentation to the microscopic and biochemical alterations of affected enamel. While the classification of ARAI recognizes 4 distinct subtypes based on phenotype, only 2 are currently recognized by OMIM.5 Refined phenotype characterization will enhance future molecular studies directed at identifying the
Acknowledgements
This research was supported by the National Institute for Dental and Craniofacial Research Grant RO1 DE12879.
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