title: DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism.
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.
authors.affiliation: Department of Pediatric Dentistry, Dental School, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, MC 7888, San Antonio, TX 78229, USA.
authors.forename: Juan
authors.initials: J
authors.lastname: Dong
authors.forename: David
authors.initials: D
authors.lastname: Amor
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Aldred
authors.forename: TingTing
authors.initials: T
authors.lastname: Gu
authors.forename: Michael
authors.initials: M
authors.lastname: Escamilla
authors.forename: Mary
authors.initials: M
authors.lastname: MacDougall
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000567:Amelogenesis Imperfecta / Q000473:pathology*; D000595:Amino Acid Sequence; D001315:Australia; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003786:Dental Pulp Cavity / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C088334:Distal-less homeobox proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors; D004247:DNA