Human Genetics

, Volume 120, Issue 5, pp 653–662

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

  • Gustavo Mendoza
  • Trevor J. Pemberton
  • Kwanghyuk Lee
  • Raquel Scarel-Caminaga
  • Ruty Mehrian-Shai
  • Catalina Gonzalez-Quevedo
  • Vasiliki Ninis
  • Jaana Hartiala
  • Hooman Allayee
  • Malcolm L. Snead
  • Suzanne M. Leal
  • Sergio R. P. Line
  • Pragna I. Patel
Original Investigation

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.

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Gustavo Mendoza
    • 1
  • Trevor J. Pemberton
    • 1
  • Kwanghyuk Lee
    • 2
  • Raquel Scarel-Caminaga
    • 3
  • Ruty Mehrian-Shai
    • 1
  • Catalina Gonzalez-Quevedo
    • 1
  • Vasiliki Ninis
    • 4
  • Jaana Hartiala
    • 1
  • Hooman Allayee
    • 1
  • Malcolm L. Snead
    • 5
  • Suzanne M. Leal
    • 2
  • Sergio R. P. Line
    • 6
  • Pragna I. Patel
    • 1
    • 5
  1. 1.Institute for Genetic MedicineUniversity of Southern CaliforniaLos AngelesUSA
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.School of DentistryUniversity of São Paulo State, UNESPAraraquaraBrazil
  4. 4.Department of NeurologyBaylor College of MedicineHoustonUSA
  5. 5.Center for Craniofacial Molecular BiologyUniversity of Southern CaliforniaLos AngelesUSA
  6. 6.Faculty of Odontology of PiracicabaUNICAMPCampinasBrazil

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