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Phenotypic and Genotypic Features of Familial Hypodontia

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Phenotypic and Genotypic Features of Familial Hypodontia Institute of Dentistry, Department of Pedodontics and Orthodontics, University of Helsinki, Finland Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Helsinki PHENOTYPIC AND GENOTYPIC FEATURES OF FAMILIAL HYPODONTIA Sirpa Arte Academic Dissertation to be publicly discussed with the permission of the Faculty of Medicine of the University of Helsinki in the Main Auditorium of the Institute of Dentistry on 19 October, 2001, at 12 noon. Helsinki 2001 1b216251taitto28.9 1 28.9.2001, 17:49 Supervised by Sinikka Pirinen, DDS, PhD Professor Department of Pedodontics and Orthodontics Institute of Dentistry, University of Helsinki, Finland Irma Thesleff, DDS, PhD Professor Developmental Biology Programme Institute of Biotechnology, University of Helsinki, Finland Reviewed by Mirja Somer, MD, PhD Docent Department of Medical Genetics University of Helsinki and Clinical Genetics Unit Helsinki University Central Hospital, Finland Birgitta Bäckman, DDS, PhD Associate Professor Department of Odontology/Pedodontics Faculty of Medicine and Odontology University of Umeå, Sweden ISBN 952-91-3894-6 (Print) ISBN 952-10-0154-2 (PDF) Yliopistopaino Helsinki 2001 1b216251taitto28.9 2 28.9.2001, 17:49 To Lauri, Eero, and Elisa 1b216251taitto28.9 3 28.9.2001, 17:49 4 1b216251taitto28.9 4 28.9.2001, 17:49 CONTENTS LIST OF ORIGINAL PUBLICATIONS ................................................................. 9 ABBREVIATIONS..................................................................................................... 10 ABSTRACT ................................................................................................................ 11 INTRODUCTION ...................................................................................................... 12 REVIEW OF THE LITERATURE .......................................................................... 13 1. CONGENITALLY MISSING TEETH .................................................................... 13 1.1. Definition, diagnosis and terminology............................................................ 13 1.2. Etiology ........................................................................................................... 14 1.2.1. Environmental factors ................................................................................ 14 1.2.2. Genetic factors ........................................................................................... 15 2. CONGENITALLY MISSING TEETH IN PRIMARY DENTITION ..................... 16 3. NONSYNDROMIC HYPODONTIA IN PERMANENT DENTITION ................ 17 3.1. Prevalence ........................................................................................................ 17 3.2. Characteristics ................................................................................................. 18 4. NONSYNDROMIC OLIGODONTIA IN PERMANENT DENTITION .............. 20 5. ANODONTIA .......................................................................................................... 21 6. HYPODONTIA ASSOCIATED WITH CLEFTING AND SYNDROMES ........... 21 6.1. Isolated cleft lip/palate .................................................................................... 21 6.2. Pierre Robin sequence ..................................................................................... 21 6.3. Van der Woude syndrome ................................................................................ 22 6.4. MSX1 mutation ................................................................................................ 22 6.5. Ectodermal dysplasias (EDs) .......................................................................... 22 6.5.1. Hypohidrotic ectodermal dysplasia (EDA or HED) .............................. 22 6.5.2. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) .............. 23 6.5.3. Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) ................. 24 6.5.4. Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) ..................... 24 6.5.5. Hypohidrotic ectodermal dysplasia and immune deficiency (HED-ID) 25 6.5.6. Oral-facial-digital syndrome type1 (OFD1) .......................................... 25 6.5.7. Witkop tooth-nail syndrome ................................................................... 25 6.5.8. Fried syndrome ....................................................................................... 26 6.5.9. Böök syndrome (PHC) ........................................................................... 26 6.5.10. Hair-nail-skin-teeth dysplasias ............................................................. 26 6.6. Rieger syndrome.............................................................................................. 26 6.7. Holoprosencephaly .......................................................................................... 27 5 1b216251taitto28.9 5 28.9.2001, 17:49 6.8. Down syndrome (trisomy 21) ......................................................................... 27 6.9. Wolf-Hirschhorn syndrome (deletion 4p) ....................................................... 27 6.10. Kabuki syndrome .......................................................................................... 28 6.11. Diastrophic dysplasia (DTD) ........................................................................ 28 6.12. Hemifacial microsomia ................................................................................. 28 6.13. Recessive incisor hypodontia (RIH) ............................................................. 29 7. ASSOCIATED DENTAL ANOMALIES ................................................................ 29 7.1. Delayed formation and eruption of teeth ........................................................ 30 7.2. Reduction in tooth size and form .................................................................... 30 7.3. Malposition of teeth ........................................................................................ 31 7.3.1. Ectopic maxillary canines ...................................................................... 31 7.3.2. Ectopic eruption of other teeth ............................................................... 31 7.4. Infraposition of primary molar(s) ................................................................... 32 7.5. Short roots of teeth ......................................................................................... 32 7.6. Taurodontism ......................................................................................... 32 7.7. Rotation of premolars and/or maxillary lateral incisors ................................. 32 7.8. Enamel hypoplasia, hypocalcification ............................................................ 33 8. TOOTH DEVELOPMENT ...................................................................................... 33 8.1. Initiation and morphogenesis .......................................................................... 33 8.2. Tooth families and the development of dentition ........................................... 34 8.2.1. Evolution ......................................................................................... 34 8.2.2. Tooth families ......................................................................................... 35 8.2.3. Chronology of the development of human dentition ............................. 36 8.3. Signaling networks in tooth development....................................................... 36 8.3.1. Signals ......................................................................................... 37 8.3.2. Transcription factors ............................................................................... 37 9. TRANSGENIC MICE WITH TOOTH AGENESIS ............................................... 39 10. METHODS FOR IDENTIFYING GENES BEHIND HUMAN DISEASES ...... 40 10.1. Mapping of a disease gene ............................................................................ 40 10.1.1. General principles ................................................................................. 40 10.1.2. Linkage analysis ................................................................................... 41 10.1.3. Genetic markers and the polymerase chain reaction (PCR) ................ 42 AIMS OF THE PRESENT STUDY ......................................................................... 43 SUBJECTS AND METHODS .................................................................................. 44 1. SUBJECTS ......................................................................................... 44 1.1. Families with hypodontia ................................................................................ 44 6 1b216251taitto28.9 6 28.9.2001, 17:49 1.2. Families with oligodontia ................................................................................ 46 2. METHODS............................................................................................................... 46 2.1. Diagnosis of congenitally missing teeth ............................................................... 46 2.1.1. Studies I, II, and III ................................................................................ 46 2.1.2. Study IV .................................................................................................. 46 2.2. Penetrance........................................................................................................ 46 2.3. Dental age ........................................................................................................ 47 2.4.
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