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Oral Dis. 2016 May;22(4):297-302. doi: 10.1111/odi.12439. Epub 2016 Feb 26.

Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.

Author information

1
Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
2
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
3
Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
4
Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.

Abstract

OBJECTIVE:

To identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI).

SUBJECTS AND METHODS:

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.

KEYWORDS:

DLX3; Taurodontism; enamel; genetic diseases; hereditary; tooth

PMID:
26762616
DOI:
10.1111/odi.12439
[Indexed for MEDLINE]

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