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DLX3 mutation in a new family and its phenotypic variations

Cited 24 time in Web of Science Cited 25 time in Scopus
Authors
Lee, S.-K.; Lee, Z.H.; Lee, S.-J.; Ahn, B.-D.; Kim, Y.-J.; Lee, S.-H.; Kim, J.-W.
Issue Date
2008
Publisher
American and International Associations for Dental
Citation
Journal of Dental Research 87: 354-357
Keywords
tricho-dento-osseous syndromeTDODLX3amelogenesis imperfectamutational hot spot
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.
ISSN
0022-0345
Language
English
URI
https://hdl.handle.net/10371/62078
DOI
https://doi.org/10.1177/154405910808700402
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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