dc.contributor.author |
Genno, Pamela Georges |
dc.date.accessioned |
2022-09-29T13:26:21Z |
dc.date.available |
2022-09-29T13:26:21Z |
dc.date.issued |
2017 |
dc.date.submitted |
2017 |
dc.identifier.other |
b19206677 |
dc.identifier.uri |
http://hdl.handle.net/10938/23639 |
dc.description |
Thesis. M.Sc. American University of Beirut. Department of Otolaryngology, Head and Neck surgery. Division of Orthodontics and Dentofacial Orthopedics. Faculty of Medicine 2017 W 4 G334a 2017; Primary Advisor: Dr. Joseph G. Ghafari, Professor and Head, Orthodontics and Dentofacial Orthopedics ; Co-primary advisor: Dr. Georges M. Nemer, Professor and Director, Biochemistry and Molecular Genetics ; Committee members: Dr. Anthony T. Macari, Assistant Professor, Orthodontics and Dentofacial Orthopedics ; Dr. Mazen Kurban, Associate Professor, Dermatology and Biochemistry and Molecular Genetics. |
dc.description |
Includes bibliographical references (leaves 135-143) |
dc.description.abstract |
Mandibular prognathism (MP) is a dentofacial phenotype characterized by overgrowth and-or prognathism of the mandible with or without maxillary retrognathism, leading to esthetic and functional impairments. While MP segregates within families in an autosomal-dominant manner with incomplete penetrance, environmental factors remain involved in its etiology. Only a few genome-wide family-based linkages have been done in different ethnic populations to identify the gene(s) involved in the trait, showing that the genetic determinants of MP remain unclear. Aims: 1. Explore the inheritance pattern and identify the candidate genes and loci involved in the development and familial transmission of MP in Mediterranean families; 2. Evaluate the skeletal and dento-alveolar cephalometric characteristics of affected individuals. Methods: Pedigrees of 51 Mediterranean families known to include individuals affected by MP were drawn. 14 of them, including several affected subjects, underwent a detailed data and biospecimen collection procedure. This consisted of a clinical examination followed by a lateral cephalometric radiograph on subjects where features of a Class III malocclusion were noted clinically and 5cc of blood collection from the affected and some non-affected relatives. Genetic screening was performed on 8 families (7 Lebanese; 1 Lebanese-Syrian), including the largest number of affected individuals over many generations and the most severe conditions, using Next Generation Sequencing (NGS) technology by application of a Whole Exome Sequencing (WES). Results: Most of the pedigrees suggest a Mendelian inheritance pattern and segregate in an autosomal-dominant manner. Pedigree analysis showed an average of 3 reported generations per family, equal number of reported affected males and females (n=2) and more families with male predominance. Cephalometric analysis on affected individuals denoted long mandibular length (mandibular macrognathism), normal maxillary length, tendency to a hyperdivergent facial pattern, |
dc.format.extent |
xvii, 176 leaves : illustrations ; 30 cm + 1 CD-ROM (4 3-4 in.)||1 online resource (176 leaves) |
dc.language.iso |
eng |
dc.subject.classification |
G334a 2017 |
dc.subject.lcsh |
Dissertations, Academic.||Prognathism genetics.||Mandible.||Mandibular Fractures.||Orthodontics.||Prognathism therapy. |
dc.title |
Association between genes and familial mandibular prognathism in the Mediterranean population |
dc.type |
Thesis |
dc.contributor.department |
Department of Otolaryngology, Head and Neck surgery |
dc.contributor.institution |
American University of Beirut |
dc.contributor.authorFaculty |
Faculty of Medicine |