Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants
Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants
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DOI：
10.1016/j.ejmg.2012.05.005
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发表时间：
2012-11-01
影响因子：
1.9
通讯作者：
Van Esch, H.
中科院分区：
文献类型：
--
作者：
Isrie, M.;Froyen, G.;Van Esch, H.
全基因组阵列比较基因组杂交已成为智力障碍患者临床检查中的第一个在线诊断工具。因此，在常规诊断中经常检测到染色体 X 拷贝数变异。我们回顾性审查了全基因组 CGH 数据，以确定 2222 名转诊至我们诊断的散发性智力障碍 (ID) 男性患者队列中染色体 X 拷贝数变异 (X-CNV) 的频率和性质。在该队列中，68 名男性被发现至少有一种 X-CNV（3.1%）。然而，正确解释因果关系仍然是一项具有挑战性的任务，对于正确的咨询至关重要，特别是当 CNV 是遗传性的时。根据这些数据、早期经验和文献数据，我们设计并提出了一种算法，可用于评估在散发性男性 ID 患者中检测到的 X-CNV 的临床相关性。应用到我们的队列中，发现 19 名男性 ID 患者 (0.85%) 携带（可能）致病性 X-CNV。 (C) 2012 Elsevier Masson SAS。版权所有。
Genome-wide array comparative genome hybridization has become the first in line diagnostic tool in the clinical work-up of patients presenting with intellectual disability. As a result, chromosome X-copy number variations are frequently being detected in routine diagnostics. We retrospectively reviewed genome wide array-CGH data in order to determine the frequency and nature of chromosome X-copy number variations (X-CNV) in a cohort of 2222 sporadic male patients with intellectual disability (ID) referred to us for diagnosis. In this cohort, 68 males were found to have at least one X-CNV (3.1%). However, correct interpretation of causality remains a challenging task, and is essential for proper counseling, especially when the CNV is inherited. On the basis of these data, earlier experience and literature data we designed and propose an algorithm that can be used to evaluate the clinical relevance of X-CNVs detected in sporadic male ID patients. Applied to our cohort, 19 male ID patients (0.85%) were found to carry a (likely) pathogenic X-CNV. (C) 2012 Elsevier Masson SAS. All rights reserved.