DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.
Am J Med Genet A
; 146A(3): 343-9, 2008 Feb 01.
Article
de En
| MEDLINE
| ID: mdl-18203197
ABSTRACT
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.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Phénotype
/
Facteurs de transcription
/
Délétion de séquence
/
Protéines à homéodomaine
/
Amélogenèse imparfaite
Type d'étude:
Etiology_studies
Limites:
Female
/
Humans
/
Male
Langue:
En
Journal:
Am J Med Genet A
Sujet du journal:
GENETICA MEDICA
Année:
2008
Type de document:
Article