DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism
Copyright policy )DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism
AbstractAmelogenesis 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.
- Murdoch Children's Research Institute Australia
- Royal Children's Hospital Australia
- The University of Texas Health Science Center at San Antonio United States
Family Health, Homeodomain Proteins, Male, Base Sequence, Amelogenesis Imperfecta, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Australia, DNA, Mutation, Humans, Abnormalities, Multiple, Female, Amino Acid Sequence, Dental Pulp Cavity, Lod Score, Chromosomes, Human, Pair 17, Genes, Dominant, Microsatellite Repeats
Family Health, Homeodomain Proteins, Male, Base Sequence, Amelogenesis Imperfecta, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Australia, DNA, Mutation, Humans, Abnormalities, Multiple, Female, Amino Acid Sequence, Dental Pulp Cavity, Lod Score, Chromosomes, Human, Pair 17, Genes, Dominant, Microsatellite Repeats
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