Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family
Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family
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形态学分析和与中国家族毛牙骨综合征相关的新 DLX3 突变
DOI：
10.1111/eos.12197
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发表时间：
2015-08-01
影响因子：
1.9
通讯作者：
Feng, Hailan
中科院分区：
文献类型：
--
作者：
Li, Yue;Han, Dong;Feng, Hailan
毛发-牙-骨（TDO）综合征是一种常染色体显性遗传疾病，影响牙釉质、毛发和骨骼的形态学外观。先前的研究已经证实DLX 3基因中的突变是TDO的原因。在这项研究中，我们描述了一个中国患者的典型特征TDO -扭结的头发，釉质发育不全，头骨和颌骨增厚，硬化。不幸的是，由于过度的磨损，我们无法评估牛牙症。对牙齿研磨部分的检查显示，患者牙齿上有一层薄薄的釉质，没有杆，Tomes的颗粒层和牙本质小管异常。牙釉质的扫描电子显微镜和能量色散X射线光谱显示患者和对照个体之间存在显着差异。在激光扫描显微镜下观察的患者头发样本显示毛干中的纵向凹槽。双能X线骨密度仪测量显示，患者骨骼的骨密度值远高于正常值。最后，遗传分析揭示了一个新的从头错义突变c.533A>G（p.Q178R）的保守同源结构域的DLX 3基因。这种DLX 3突变是迄今为止确定的第六种TDO致病突变。
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.