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Unexpected identification of a recurrent mutation in the DLX 3 gene causing amelogenesis imperfecta
Author(s) -
Kim YJ,
Seymen F,
Koruyucu M,
Kasimoglu Y,
Gencay K,
Shin TJ,
Hyun HK,
Lee ZH,
Kim JW
Publication year - 2016
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12439
Subject(s) - amelogenesis imperfecta , genetics , proband , biology , candidate gene , exome sequencing , mutation , gene , phenotype , medicine , enamel paint , dentistry
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_562del CT and p.Tyr188Glnfs*13) in the DLX 3 gene. After finding a recurrent DLX 3 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 DLX 3 mutation in a new family. The clinical phenotype was the mildest one associated with the DLX 3 mutations. These results will advance the understanding of the functional role of DLX 3 in developmental processes.