Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
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DOI：
10.1159/000322036
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Mighell AJ
中科院分区：
文献类型：
--
作者：
El-Sayed W;Shore RC;Parry DA;Inglehearn CF;Mighell AJ
WDR72基因突变已在常染色体隐性低饱和度无染色体发育不全症（AI）中被发现。描述一种新的WDR72突变，并报道与不同WDR72突变相关的超微结构牙釉质表型。招募了一个常染色体隐性低熟AI家族，获得了基因组DNA并进行了WDR72测序。作为临床护理的一部分，从先前发表的WDR72突变个体中提取的四颗乳牙进行了扫描电子显微镜，能量色散x射线分析和横向显微放射摄影。在来自巴基斯坦的一个家族的WDR72中发现了一种新的纯合无义突变R897X。对WDR72突变S783X的AI患者乳牙牙釉质进行超微结构分析，x射线能谱分析显示碳氮峰正常，釉质基质蛋白未保留。然而，与正常牙齿相比，受影响牙齿的横向显微x线摄影值显着降低，与矿化程度降低一致。扫描电镜下观察到的牙釉质棒形态正常，但棒间牙釉质较对照组突出。用α-凝乳胰蛋白酶或脂肪酶孵育后，这种现象没有改变。新发现的WDR72突变使已报道的WDR72突变总数达到4个。对WDR72纯合子突变个体的乳牙釉质的分析发现，这种变化与釉质成熟的晚期失败一致，没有基质蛋白的保留。细胞内WDR72影响牙釉质成熟的机制尚不清楚。
Mutations in WDR72 have been identified in autosomal recessive hypomaturation amelogenesis imperfecta (AI). to describe a novel WDR72 mutation and report the ultrastructural enamel phenotype associated with a different WDR72 mutation. A family segregating autosomal recessive hypomaturation AI was recruited, genomic DNA obtained and WDR72 sequenced. Four deciduous teeth from one individual with a previously published WDR72 mutation, extracted as part of clinical care, were subjected to scanning electron microscopy, energy-dispersive X-ray analysis and transverse microradiography. A novel homozygous nonsense mutation, R897X, was identified in WDR72 in a family originating from Pakistan. Ultrastructural analysis of enamel from the deciduous teeth of an AI patient with the WDR72 mutation S783X revealed energy-dispersive X-ray analysis spectra with normal carbon and nitrogen peaks, excluding retention of enamel matrix protein. However, transverse microradiography values were significantly lower for affected teeth when compared to normal teeth, consistent with reduced mineralisation. On scanning electron microscopy the enamel rod form observed was normal, yet with inter-rod enamel more prominent than in controls. This appearance was unaltered following incubation with either α-chymotrypsin or lipase. The novel WDR72 mutation described brings the total reported WDR72 mutations to four. Analyses of deciduous tooth enamel in an individual with a homozygous WDR72 mutation identified changes consistent with a late failure of enamel maturation without retention of matrix proteins. The mechanisms by which intracellular WDR72 influences enamel maturation remain unknown.
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影响因子：
3.5
作者：
Barron MJ;Brookes SJ;Kirkham J;Shore RC;Hunt C;Mironov A;Kingswell NJ;Maycock J;Shuttleworth CA;Dixon MJ
通讯作者：
Dixon MJ
影响因子：
4.2
作者：
Lacruz, Rodrigo S.;Nanci, Antonio;Kurtz, Ira;Wright, J. Timothy;Paine, Michael L.
通讯作者：
Paine, Michael L.
影响因子：
4.8
作者：
Nagano, F;Kawabe, H;Takai, Y
通讯作者：
Takai, Y
影响因子：
4.2
作者：
CUISINIER, FJG;STEUER, P;FRANK, RM
通讯作者：
FRANK, RM
釉质在小鼠牙齿发育中的分布
DOI：
10.1002/ar.21022
发表时间：
2010-01-01
影响因子：
2
作者：
Gao, Yuguang;Wang, Wanchun;Han, Tingting
通讯作者：
Han, Tingting