Huppke Peter, Köhler Karola, Laccone Franco, Hanefeld Folker
Neuropediatric Department and Department of Genetic Epidemiology, Institute of Human Genetics, Georg-August-Universität Göttingen, Göttingen, Germany.
J Pediatr. 2003 Mar;142(3):332-5. doi: 10.1067/mpd.2003.96.
We reevaluated 49 girls with either Rett syndrome (RTT) or features of RTT who had negative test results for mutations in the MECP2 gene and compared them with 49 girls who had positive test results. The girls with MECP2-positive results included 2 girls with forme fruste and 2 with congenital RTT. Study design Based on the original diagnostic criteria for RTT, we developed a 10-item checklist with a score ranging from 0 to 12.
If only girls with a score of 8 or more had been tested, 46% of the girls without mutations would have been excluded from testing without missing a single girl with MECP2-positive results.
This checklist provides a simple aid for deciding whether or not a genetic test for RTT should be performed with only a minimal risk of missing girls with MECP2-positive results.
我们重新评估了49名患有雷特综合征（RTT）或具有RTT特征但MECP2基因突变检测结果为阴性的女孩，并将她们与49名检测结果为阳性的女孩进行了比较。MECP2检测结果为阳性的女孩中包括2名顿挫型患者和2名先天性RTT患者。研究设计基于RTT的原始诊断标准，我们制定了一份包含10个条目的清单，分数范围为0至12分。
如果仅对得分8分及以上的女孩进行检测，那么46%未发生突变的女孩将被排除在检测之外，且不会遗漏任何一名MECP2检测结果为阳性的女孩。
这份清单为决定是否应进行RTT基因检测提供了一种简单的辅助手段，且遗漏MECP2检测结果为阳性女孩的风险极小。
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