Publications
Detailed Information
DLX3 mutation in a new family and its phenotypic variations
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, S.-K. | - |
dc.contributor.author | Lee, Z.H. | - |
dc.contributor.author | Lee, S.-J. | - |
dc.contributor.author | Ahn, B.-D. | - |
dc.contributor.author | Kim, Y.-J. | - |
dc.contributor.author | Lee, S.-H. | - |
dc.contributor.author | Kim, J.-W. | - |
dc.date.accessioned | 2010-03-29T04:42:19Z | - |
dc.date.available | 2010-03-29T04:42:19Z | - |
dc.date.issued | 2008 | - |
dc.identifier.citation | Journal of Dental Research 87: 354-357 | en |
dc.identifier.issn | 0022-0345 | - |
dc.identifier.uri | https://hdl.handle.net/10371/62078 | - |
dc.description.abstract | Tricho-dento-osseous syndrome (TDO) is an
autosomal-dominant disease characterized by curly hair at birth, enamel hypoplasia, taurodontism, and a thick cortical bone. A common DLX3 gene mutation (c.571_574delGGGG) has been identified in multiple families with variable clinical phenotypes. Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). We identified a Korean family with overlapping phenotypes of TDO and AIHHT. We performed mutational analysis to discover its genetic etiology. The identified mutation was c.561_562delCT mutation in the DLX3 gene. The enamel was hypomature and hypoplastic. The characteristic taurodontic features were not identified. Increased bone density or thickness could not be revealed by cephalometric, handwrist, and panoramic radiographs. Affected individuals reported that their nails were brittle, and they had curly hair at birth. This study clearly showed that the c.561_562delCT mutation had not only enamel defects, but also other clinical phenotypes resembling those of TDO syndrome. | en |
dc.description.sponsorship | We thank all the family members involved in this study for
their cooperation. This work was supported by a grant from the Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (A060010), and by the Korea Science and Engineering Foundation (KOSEF) through the Biotechnology R&D program (#2006-05229). | en |
dc.language.iso | en | en |
dc.publisher | American and International Associations for Dental | en |
dc.subject | tricho-dento-osseous syndrome | en |
dc.subject | TDO | en |
dc.subject | DLX3 | en |
dc.subject | amelogenesis imperfecta | en |
dc.subject | mutational hot spot | en |
dc.title | DLX3 mutation in a new family and its phenotypic variations | en |
dc.type | Article | en |
dc.identifier.doi | 10.1177/154405910808700402 | - |
- Appears in Collections:
- Files in This Item:
- There are no files associated with this item.
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.