A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
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DOI：
10.1038/ng.93
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发表时间：
2008-03-01
期刊：
影响因子：
30.8
通讯作者：
Eichler, Evan E.
中科院分区：
文献类型：
--
作者：
Sharp, Andrew J.;Mefford, Heather C.;Eichler, Evan E.
我们报告了一种复发性微缺失综合征，导致智力低下，癫痫和可变面部和数字畸形。我们描述了九个受影响的个体，其中包括六个概率：两个具有从头删除的人，两个继承了受影响的父母的删除，还有两个具有未知的继承。最大删除的近端断点与Prader-Willi和Angelman综合征区的断点3（BP3）连续，远端延伸至BP5。较小的1.5-MB删除在较大的删除（BP4）内具有近端断点，并共享相同的远端BP5。这种经常性的1.5-MB缺失包含六个基因，其中包括癫痫的候选基因（CHRNA7），可能导致观察到的癫痫发作表型。 BP4-BP5区域经常发生反转，这表明这种反转多态性和经常性缺失之间可能存在联系。这些微缺失在智力迟缓病例中的频率与0.3％（6/2,082测试）相似，这种患病率与威廉姆斯，安吉尔曼和普拉德 - 威利综合症相当。
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is similar to 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.