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学科主题: 口腔医学
题名:
Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family
作者: Li, Yue1; Han, Dong1; Zhang, Hao1; Liu, Haochen1; Wong, Singwai1; Zhao, Na1; Qiu, Lixin2; Feng, Hailan1
关键词: DLX3 ; enamel hypoplasia ; jaw bones thickening ; kinky hair ; tricho-dento-osseous syndrome
刊名: EUROPEAN JOURNAL OF ORAL SCIENCES
发表日期: 2015-08-01
DOI: 10.1111/eos.12197
卷: 123, 期:4, 页:228-234
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dentistry, Oral Surgery & Medicine
研究领域[WOS]: Dentistry, Oral Surgery & Medicine
关键词[WOS]: DENTO-OSSEOUS SYNDROME ; AMELOGENESIS-IMPERFECTA ; DLX3 MUTATION ; TDO SYNDROME ; DIFFERENTIATION ; GENE ; HAIR ; BONE ; TAURODONTISM ; ENAMEL
英文摘要:

Tricho-dento-osseous (TDO) syndrome, an autosomal-dominant disorder, affects the morphological appearance of the tooth enamel, hair, and bone. Previous studies have confirmed that mutations in the DLX3 gene are responsible for TDO. In this study, we describe a Chinese patient with the typical traits of TDO - kinky hair, enamel hypoplasia, skull and jaw bones thickening, and sclerosis. Unfortunately, as a result of excessive attrition, we were unable to assess taurodontism. Examination of the tooth ground section showed a thin layer of enamel with no rods on the patient′s tooth and abnormalities in Tomes′ granular layer and the dentinal tubules. Scanning electron microscopy and energy-dispersive X-ray spectroscopy of the tooth enamel showed significant differences between the patient and the control individuals. A hair sample from the patient observed under a laser-scanning microscope showed longitudinal grooves in the hair shaft. Dual-energy X-ray absorptiometry measurement showed that the bone mineral density values of the patient′s bones was much higher than normal. Finally, genetic analysis revealed a novel de novo missense mutation c.533A>G (p.Q178R) in the conserved homeodomain of the DLX3 gene. This DLX3 mutation is the sixth causative mutation for TDO to be identified so far.

语种: 英语
所属项目编号: 81070814 ; 81271121 ; 7092113
项目资助者: National Natural Science Foundation of China ; Beijing Natural Science Foundation
WOS记录号: WOS:000357696500002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64271
Appears in Collections:北京大学口腔医学院_口腔修复科_期刊论文

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作者单位: 1.Peking Univ Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
2.Peking Univ Sch & Hosp Stomatol, Dent Div 4, Beijing 100081, Peoples R China

Recommended Citation:
Li, Yue,Han, Dong,Zhang, Hao,et al. Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family[J]. EUROPEAN JOURNAL OF ORAL SCIENCES,2015,123(4):228-234.
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