Original Investigation

Human Genetics

, Volume 120, Issue 5, pp 653-662

First online:

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

  • Gustavo MendozaAffiliated withInstitute for Genetic Medicine, University of Southern California
  • , Trevor J. PembertonAffiliated withInstitute for Genetic Medicine, University of Southern California
  • , Kwanghyuk LeeAffiliated withDepartment of Molecular and Human Genetics, Baylor College of Medicine
  • , Raquel Scarel-CaminagaAffiliated withSchool of Dentistry, University of São Paulo State, UNESP
  • , Ruty Mehrian-ShaiAffiliated withInstitute for Genetic Medicine, University of Southern California
  • , Catalina Gonzalez-QuevedoAffiliated withInstitute for Genetic Medicine, University of Southern California
  • , Vasiliki NinisAffiliated withDepartment of Neurology, Baylor College of Medicine
  • , Jaana HartialaAffiliated withInstitute for Genetic Medicine, University of Southern California
  • , Hooman AllayeeAffiliated withInstitute for Genetic Medicine, University of Southern California
    • , Malcolm L. SneadAffiliated withCenter for Craniofacial Molecular Biology, University of Southern California
    • , Suzanne M. LealAffiliated withDepartment of Molecular and Human Genetics, Baylor College of Medicine
    • , Sergio R. P. LineAffiliated withFaculty of Odontology of Piracicaba, UNICAMP
    • , Pragna I. PatelAffiliated withInstitute for Genetic Medicine, University of Southern CaliforniaCenter for Craniofacial Molecular Biology, University of Southern California Email author 

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Abstract

Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.