DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

American Journal of Medical Genetics, Part A - Tập 133A Số 2 - Trang 138-141 - 2005
Juan Dong1, David J. Amor2,3, Michael J. Aldred4,2, Tingting Gu1, Michael Escamilla1, Mary MacDougall1
1Department of Pediatric Dentistry, Dental School, University of Texas Health Science Center at San Antonio, San Antonio, Texas
2Genetic Health Services Victoria, Melbourne, Australia
3Murdoch Children’s Research Institute, Melbourne, Australia
4Department of Dentistry, Royal Children's Hospital Melbourne, Australia

Tóm tắt

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.

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Tài liệu tham khảo

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Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 133A Số 2

138-141

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