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

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KIM Y., Seymen F. , Koruyucu M., Kasimoglu Y., Gencay K., SHIN T. J. , ...Daha Fazla

ORAL DISEASES, cilt.22, ss.297-302, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 22 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1111/odi.12439
  • Dergi Adı: ORAL DISEASES
  • Sayfa Sayıları: ss.297-302

Özet

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

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.