CLINICAL & PHENOTYPIC PROFILE IN FAMILIES WITH MISSING TEETH

Objectives: To describe the pattern of clinical presentation of missing teeth in studied population.
To describe the mode of inheritance of missing teeth in studied population.
Methods: STUDY DESIGN
It was a descriptive study.
SETTING:
The clinical examinations of the affected individuals and their Oral Stereognostic (OSA), Oral Motor ability (OMA) testing were conducted in the Department of Prosthodontics, Army Medical College, National University of science & Technology (NUST) Islamabad, Pakistan.

SUBJECTS:
Forty subjects and their families were selected using purposive, non-probability technique.
INCLUSION CRITERIA:
Families with two or more affected individuals in an extended family were considered.
Results: DEMOGRAPHIC & CLINICAL DATA
Demographic data like age, gender, number and pattern of missing teeth were recorded on the prescribed proforma.
Clinical pattern were established using detailed history, clinical examination and radiographic evaluation of the affected subjects. Three generation pedigree were drawn and the mode of inheritance was established.
FUTURE PROSPECTS:
MOLECULAR GENETIC ANALYSIS
Blood samples will be drawn from the affected person, his/her parents and at least one normal sibling. DNA will be extracted. Micro satellite markers tightly linked to the target genes (MSX1, PAX9, AXIN2) will be amplified using PCR. Analysis of the PCR products will be performed on non-denaturing poly acrylamide gel electrophoresis. On the basis of Linkage of the families to any of the genes, subsequent exon based DNA sequencing will be performed in the affected individuals. Primers to amplify the exons of the respective genes will be designed from the intronic sequences using primer 3 software. Bio Edit V 3.0.1 will be used for analysis of sequencing data.
Conclusions: RESULTS:
The clinical part of the study revealed the clinical and phenotypic profile of the disease condition in our local population.
OUTCOME UTILIZATION:
This study added to the knowledge about the clinical presentation and pathogenesis of tooth agenesis in the studied population. This in turn assisted in establishing clinico pathological diagnosis and genetic counseling facilities for the affected patients and families.