Get access

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

Authors

  • Juan Dong,

    1. Department of Pediatric Dentistry, Dental School, University of Texas Health Science Center at San Antonio, San Antonio, Texas
    Search for more papers by this author
  • David Amor,

    1. Genetic Health Services Victoria, Melbourne, Australia
    2. Murdoch Children's Research Institute, Melbourne, Australia
    Search for more papers by this author
  • Michael J. Aldred,

    1. Genetic Health Services Victoria, Melbourne, Australia
    2. Department of Dentistry, Royal Children's Hospital, Melbourne, Australia
    Search for more papers by this author
  • TingTing Gu,

    1. Department of Pediatric Dentistry, Dental School, University of Texas Health Science Center at San Antonio, San Antonio, Texas
    Search for more papers by this author
  • Michael Escamilla,

    1. Department of Pediatric Dentistry, Dental School, University of Texas Health Science Center at San Antonio, San Antonio, Texas
    Search for more papers by this author
  • Mary MacDougall

    Corresponding author
    1. Department of Pediatric Dentistry, Dental School, University of Texas Health Science Center at San Antonio, San Antonio, Texas
    • University of Texas Health Science Center at San Antonio Dental School, 7703 Floyd Curl Drive MC 7888, San Antonio, TX 78229-3900.
    Search for more papers by this author

Abstract

Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is an autosomal dominant (AD) trait associated with enamel defects and enlarged pulp chambers. In this study, we mapped an AIHHT family to human chromosome 17 q21-q22 (lod score 3.3) and identify a two basepair deletion (CT) at nucleotide 560 in DLX3 associated with the disease. This mutation causes a frameshift altering the last two amino acids of the DNA-binding homeodomain introducing a premature stop codon truncating the protein by 88 amino acids. This is the first report of a mutation within the homeodomain of DLX3. Previous studies have shown a DLX3 mutation outside the homeodomain associated with tricho-dento-osseous syndrome (TDO) suggesting TDO and some forms of AIHHT are allelic. copy; 2005 Wiley-Liss, Inc.

Ancillary