期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 133A, 期 2, 页码 138-141出版社
WILEY
DOI: 10.1002/ajmg.a.30521
关键词
enamel defects; homeodomain; human chromosome 17
资金
- NIDCR NIH HHS [DE 09875] Funding Source: Medline
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 DLK3. 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. (C) 2005 Wiley-Liss, Inc.
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