Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
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DOI：
10.1111/j.1399-0004.2005.00377.x
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发表时间：
2005-01-01
影响因子：
3.5
通讯作者：
Koiffmann, CP
中科院分区：
文献类型：
--
作者：
Varela, MC;Kok, F;Koiffmann, CP
Prader-Willi综合征（PWS）可由15 q11-q13的父亲缺失、母亲单亲二体性（UPD）或印记突变引起。我们在这里描述的表型变异检测51例不同类型的缺失和24例UPD患者。虽然两种主要类型的PWS缺失患者之间没有统计学显著差异，但观察到I型（BP 1-BP 3）患者获得言语的时间晚于11型（BP 2-BP 3）患者。比较我们的UPD患者的临床图片与那些与缺失，我们发现，UPD儿童表现出较低的出生长度和开始走路早，和删除的患者比UPD患者癫痫发作的发生率高得多。此外，UPD组的平均母亲年龄高于缺失组。在PWS的任何主要特征方面，缺失组和UPD组之间没有统计学显著差异。总之，我们的研究没有检测到I型和11型PWS缺失患者之间存在显着的表型差异，但它确实表明缺失患者的癫痫发作频率是UPD患者的六倍。
Prader-Willi syndrome (PWS) can result from a 15q11-q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. We describe here the phenotypic variability detected in 51 patients with different types of deletions and 24 patients with UPD. Although no statistically significant differences could be demonstrated between the two main types of PWS deletion patients, it was observed that type I (BP1-BP3) patients acquired speech later than type 11 (BP2-BP3) patients. Comparing the clinical pictures of our patients with UPD with those with deletions, we found that UPD children presented with lower birth length and started walking earlier and deletion patients presented with a much higher incidence of seizures than UPD patients. In addition, the mean maternal age in the UPD group was higher than in the deletion group. No statistically significant differences could be demonstrated between the deletion and the UPD group with respect to any of the major features of PWS. In conclusion, our study did not detect significant phenotypic differences among type I and type 11 PWS deletion patients, but it did demonstrate that seizures were six times more common in patients with a deletion than in those with UPD.