Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.
Oral Dis
; 22(4): 297-302, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-26762616
ABSTRACT
OBJECTIVE:
To identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI). SUBJECTS ANDMETHODS:
DNA samples were collected from a six-generation family, and the candidate gene approach was used to screen for the enamelin (ENAM) gene. Whole-exome sequencing and linkage analysis with SNP array data identified linked regions, and candidate gene screening was performed.RESULTS:
Mutational analysis revealed a mutation (c.561_562delCT and p.Tyr188Glnfs*13) in the DLX3 gene. After finding a recurrent DLX3 mutation, the clinical phenotype of the family members was re-examined. The proband's mother had pulp elongation in the third molars. The proband had not hair phenotype, but her cousin had curly hair at birth.CONCLUSIONS:
In this study, we identified a recurrent 2-bp deletional DLX3 mutation in a new family. The clinical phenotype was the mildest one associated with the DLX3 mutations. These results will advance the understanding of the functional role of DLX3 in developmental processes.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Sequência de Bases
/
Deleção de Sequência
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Proteínas de Homeodomínio
/
Amelogênese Imperfeita
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Oral Dis
Assunto da revista:
ODONTOLOGIA
Ano de publicação:
2016
Tipo de documento:
Article