How to cite this article: Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Luder HU. 2008. DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. Am J Med Genet Part A 146A:343–349.
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome†
Article first published online: 17 JAN 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 3, pages 343–349, 1 February 2008
How to Cite
Wright, J. T., Hong, S. P., Simmons, D., Daly, B., Uebelhart, D. and Luder, H. U. (2008), DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. Am. J. Med. Genet., 146A: 343–349. doi: 10.1002/ajmg.a.32132
- Issue published online: 25 JAN 2008
- Article first published online: 17 JAN 2008
- Manuscript Accepted: 18 SEP 2007
- Manuscript Received: 9 MAY 2007
- General Clinical Research Centers Program of the Division of Research Resources. Grant Number: RR00046
- National Institute of Dental and Craniofacial Research. Grant Number: DE12202
- National Institutes of Health
The distal-less homeobox gene DLX3 is expressed in a variety of tissues including placenta, skin, hair, teeth, and bone. Mutation of DLX3 (c.571_574delGGGG) causes the tricho-dento-osseous syndrome (TDO), characterized by abnormal hair, teeth, and bone. Evaluation of a kindred segregating the DLX3 c.561_562delCT mutation revealed distinct changes in the hair, teeth, and bones as has been observed with the DLX3 c.571_574delGGGG mutation. Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism. The present study shows that the DLX3 c.560_561delCT mutation causes an attenuated TDO phenotype with less severe hair, tooth, and bone manifestations compared with individuals having the DLX3 c.571_574delGGGG mutation. Careful phenotyping of individuals with allelic DLX3 mutations reveals marked differences in phenotypic severity indicating that the carboxy-terminus of the DLX3 protein is critical in determining its function during development in these different tissues. © 2008 Wiley-Liss, Inc.