Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome
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DOI：
10.1016/j.braindev.2003.12.013
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发表时间：
2005-08-01
影响因子：
1.7
通讯作者：
Niikawa, N
中科院分区：
文献类型：
--
作者：
Saitoh, S;Wada, T;Niikawa, N
我们使用DNA甲基化检测和微卫星多态性分析检测了54例缺失阴性Angelman综合征（AS）患者，并确定了3例父亲单亲二体（UPD）和7例印迹缺陷（ID）患者。这三名UPD患者均为父系15号染色体同二体，我们推测这是由于15号染色体重复所致。其中两名ID患者是兄弟姐妹，并携带印记中心（IC）的微缺失，而其余的活患者没有缺失的证据，并代表散发病例。三名UPD患者中的两名和七名ID患者中的两名未发生癫痫发作。唯一显示小头畸形的患者是IC处有微缺失的ID患者。这些数据支持了先前的研究结果，即UPD和ID患者可能具有较轻的AS表型。(c)2005 Elsevier B.V.保留所有权利。
We examined 54 patients with deletion-negative Angelman syndrome (AS) using DNA methylation testing and microsatellite polymorphism analysis, and identified three patients with paternal uniparental disomy (UPD) and seven patients with imprinting defects (ID). The three patients with UPD were shown to have paternal isodisomy 15, which we hypothesized to have arisen from duplication of chromosome 15. Two of the patients with ID were siblings and carried microdeletions of the imprinting center (IC), while the remaining live patients had no evidence of deletions and represented sporadic cases. Two of the three patients with UPD and two of the seven patients with ID had not developed seizures. The only patients displaying microcephaly were those with ID who had microdeletions at the IC. These data support the previous findings that indicate that patients with UPD and ID may have a milder phenotype of AS. (c) 2005 Elsevier B.V. All rights reserved.