Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening
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DOI：
10.1038/sj.ejhg.5200488
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发表时间：
2000-07-01
影响因子：
5.2
通讯作者：
Moraine, C
中科院分区：
文献类型：
--
作者：
Moizard, MP;Toutain, A;Moraine, C
杜氏肌营养不良症与不同程度的选择性认知缺陷有关，言语智力和阅读能力评分较低。许多研究结果表明，位于基因第二部分的重排似乎优先与认知障碍有关。几种肌营养不良蛋白转录物在脑中表达。其中较远端的Dp 71占主导地位。我们对12例DMD患者进行了Dp 71转录本突变分析，这些患者均为重度、轻度或非弱智，均未检测到缺失或重复。我们已经检测到五个点突变导致Dp 71过早翻译终止。所有这些都是在该组中更严重的智力迟钝患者中发现的（VIQ < 50和/或没有阅读能力）。
Duchenne muscular dystrophy is associated with variable degrees of selective cognitive defect with lower scores for verbal intelligence and reading abilities. A number of findings have shown that rearrangements located in the second part of the gene seem to be preferentially associated with cognitive impairment. Several dystrophin transcripts are expressed in the brain. The more distal of them, Dp71, is predominant. We have carried out a mutational analysis of Dp 71 transcript in 12 DMD patients severely, mildly or not retarded, all without detectable deletion or duplication. We have detected five point mutations causing Dp 71 premature translation termination. All were found among the more severely mentally retarded patients of this group (VIQ < 50 and/or no reading acquisition).