Human Genetics

, Volume 120, Issue 5, pp 653–662 | Cite as

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. PatelEmail author
Original Investigation


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.


Dental Tissue Hypothetical Gene Enamel Matrix Amelogenesis Imperfecta Dentinogenesis Imperfecta 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



This research was supported by grants DE14102 (P.I.P.) and DE06988 (M.L.S.) from the National Institute of Dental and Craniofacial Research. Genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, contract number N01-HG-65403. This investigation was conducted in a facility constructed with support from Research Facilities Improvement Program Grant Number C06 (RR10600-01, CA62528-01, RR14514-01) from the National Center for Research Resources, National Institutes of Health.


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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
    Email author
  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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