Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
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DOI：
10.1136/jmg.36.3.183
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发表时间：
1999-03
影响因子：
4
通讯作者：
L. Villard;Marie-Claude Bonino;F. Abidi;A. Ragusa;J. Belougne;A. Lossi;L. Seaver;J. Bonnefont;C. Romano;M. Fichera;D. Lacombe;A. Hanauer;N. Philip;C. Schwartz;M. Fontès
中科院分区：
文献类型：
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作者：
L. Villard;Marie-Claude Bonino;F. Abidi;A. Ragusa;J. Belougne;A. Lossi;L. Seaver;J. Bonnefont;C. Romano;M. Fichera;D. Lacombe;A. Hanauer;N. Philip;C. Schwartz;M. Fontès
我们报告的评估策略筛查XNP/ATR-X突变的男性精神发育迟滞和相关畸形。由于迄今为止报道的该基因中近一半的突变都属于短的300 bp转录区域，我们决定将重点放在该区域，并将突变分析扩展到具有阴性家族史的病例。本研究包括21名智障男性患者，因为他们有严重的精神发育迟滞和典型的面部外观。认为血红蛋白H或泌尿生殖系统异常的存在对于纳入本研究并不重要。我们已经确定了6个突变，代表突变检测率为28%。这个数字是足够高的，我们提出这一战略作为一个有效的第一级筛选在选定的一个子集的男性智力低下。这种方法简单，不需要RNA制备，不涉及耗时的突变检测方法，因此可以在任何给定的实验室中以低成本应用于大量患者。
We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene reported to date fall into a short 300 bp region of the transcript, we decided to focus in this region and to extend the mutation analysis to cases with a negative family history. This study includes 21 mentally retarded male patients selected because they had severe mental retardation and a typical facial appearance. The presence of haemoglobin H or urogenital abnormalities was not considered critical for inclusion in this study. We have identified six mutations which represents a mutation detection rate of 28%. This figure is high enough for us to propose this strategy as a valid first level of screening in a selected subset of males with mental retardation. This approach is simple, does not require RNA preparation, does not involve time consuming mutation detection methods, and can thus be applied to a large number of patients at a low cost in any given laboratory.