DLX3 mutation in a new family and its phenotypic variations.
J Dent Res
; 87(4): 354-7, 2008 Apr.
Article
in En
| MEDLINE
| ID: mdl-18362318
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, hand-wrist, 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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Transcription Factors
/
Frameshift Mutation
/
Homeodomain Proteins
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
J Dent Res
Year:
2008
Document type:
Article