IR@PKUHSC  > 北京大学口腔医学院  > 口腔修复科
学科主题口腔医学
Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family
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
2015-08-01
DOI10.1111/eos.12197
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
WOS记录号WOS:000357696500002
引用统计
被引频次:11[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64271
专题北京大学口腔医学院_口腔修复科
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
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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.
APA Li, Yue.,Han, Dong.,Zhang, Hao.,Liu, Haochen.,Wong, Singwai.,...&Feng, Hailan.(2015).Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family.EUROPEAN JOURNAL OF ORAL SCIENCES,123(4),228-234.
MLA Li, Yue,et al."Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family".EUROPEAN JOURNAL OF ORAL SCIENCES 123.4(2015):228-234.
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