Anomalies of tooth formation in hypohidrotic ectodermal dysplasia
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia
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DOI：
10.1111/j.1365-263x.2006.00801.x
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发表时间：
2007-01-01
影响因子：
3.8
通讯作者：
Kreiborg, Sven
中科院分区：
文献类型：
--
作者：
Lexner, Michala O.;Bardow, Allan;Kreiborg, Sven
客观的。 X连锁少汗性外胚层发育不良（HED）是最常见的外胚层发育不良类型。由于 X 染色体失活引起不同程度的临床症状，因此临床鉴定可能的杂合女性可能很困难。这项研究首次详细阐述了在一组具有已知 ED1 突变的半合子男性和杂合子女性中发现的牙齿形成异常。这些牙齿异常可用作杂合女性的牙齿生物标志物，从而实现早期诊断，从而获得更好的治疗和遗传咨询。方法。使用全景X光片、牙模和口腔照片检查通过分子遗传学分析鉴定的半合子男性和杂合子女性的牙齿形成异常。将结果与现有对照和规范数据进行比较。结果。所有受影响的男性都有多颗恒牙缺失和牙齿畸形。与正常数据相比，杂合女性恒牙不发育的频率明显更高。杂合子女性的牙齿畸形患病率增加，牙齿尺寸减小，尤其是近远中尺寸。结论。我们的结论是，观察到的牙齿形成异常可用作潜在杂合女性临床识别中的牙齿生物标志物。
Objective. The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the first to elaborate on anomalies of tooth formation found in a group of hemizygous males and heterozygous females with known ED1 mutations. These tooth anomalies may be used as dental biomarkers for heterozygous females, enabling an earlier diagnosis, and therefore, better treatment and genetic counselling.Methods. Anomalies of tooth formation were examined using panoramic radiographs, dental casts and oral photographs in hemizygous males and heterozygous females who were identified by molecular genetic analysis. The results were compared to existing controls and normative data.Results. All affected males bad multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size, especially in the mesiodistal dimension.Conclusions. We conclude that observed anomalies of tooth formation may be used as dental biomarkers in the clinical identification of potentially heterozygous females.