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Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, Y-J | en |
dc.contributor.author | Seymen, F | - |
dc.contributor.author | Koruyucu, M | - |
dc.contributor.author | Gencay, K | - |
dc.contributor.author | Shin, TJ | - |
dc.contributor.author | Kasimoglu, Y | - |
dc.contributor.author | Hyun, Hong-Keun | - |
dc.contributor.author | Lee, ZH | - |
dc.contributor.author | Kim, Jung-Wook | - |
dc.date.accessioned | 2017-04-19T00:19:42Z | - |
dc.date.available | 2017-07-31T23:06:09Z | - |
dc.date.issued | 2016-05 | - |
dc.identifier.citation | ORAL DISEASES Vol.22 No.4, pp. 297-302 | - |
dc.identifier.issn | 1354-523X | - |
dc.identifier.uri | https://hdl.handle.net/10371/116877 | - |
dc.description.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. | en |
dc.language.iso | en | en |
dc.publisher | WILEY-BLACKWELL | en |
dc.subject | hereditary | en |
dc.subject | genetic diseases | en |
dc.subject | enamel | - |
dc.subject | tooth | - |
dc.subject | DLX3 | - |
dc.subject | Taurodontism | - |
dc.title | Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 현홍근 | - |
dc.contributor.AlternativeAuthor | 김정욱 | - |
dc.identifier.doi | 10.1111/odi.12439 | - |
dc.description.srnd | OAIID:RECH_ACHV_DSTSH_NO:T201604269 | - |
dc.description.srnd | RECH_ACHV_FG:RR00200001 | - |
dc.description.srnd | ADJUST_YN: | - |
dc.description.srnd | EMP_ID:A080446 | - |
dc.description.srnd | CITE_RATE:2 | - |
dc.description.srnd | FILENAME:Kim_et_al-2016-Oral_Diseases.pdf | - |
dc.description.srnd | DEPT_NM:치의학과 | - |
dc.description.srnd | EMAIL:hege1@snu.ac.kr | - |
dc.description.srnd | SCOPUS_YN:Y | - |
dc.description.srnd | FILEURL:https://srnd.snu.ac.kr/eXrepEIR/fws/file/1f942450-fa58-4bd3-8e50-692d90fed3c6/link | - |
dc.description.srnd | CONFIRM:Y | - |
dc.identifier.srnd | T201604269 | - |
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