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.OAIID:RECH_ACHV_DSTSH_NO:T201604269RECH_ACHV_FG:RR00200001ADJUST_YN:EMP_ID:A080446CITE_RATE:2FILENAME:Kim_et_al-2016-Oral_Diseases.pdfDEPT_NM:치의학과EMAIL:[email protected]_YN:YFILEURL:https://srnd.snu.ac.kr/eXrepEIR/fws/file/1f942450-fa58-4bd3-8e50-692d90fed3c6/linkCONFIRM:
