PDF(Pubmed)
Abstract：
Expanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual\'s carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and array comparative genomic hybridization (aCGH), allowing for extensive genome-scale analyses. Here, we report the case of a couple who underwent ECS for a case of autism spectrum disorder in the male partner family. aCGH and whole-exome sequencing (WES) were performed in the couple. aCGH analysis identified in the female partner two deletions involving genes associated to behavioral and neurodevelopment disorders. No clinically relevant alterations were identified in the husband. Interestingly, WES analysis identified in the male partner a pathogenic variant in the LPL gene that is emerging as a novel candidate gene for autism. This case shows that ECS may be useful in clinical contexts, especially when both the partners are analyzed before conception, thus allowing the estimation of their risk to transmit an inherited condition. On the other side, there are several concerns related to possible incidental findings and difficult-to-interpret results. Once these limits are defined by the establishment of specific guidelines, ECS may have a greater diffusion.
摘要：
扩展携带者筛查（ECS）是指评估个体携带者状态的综合遗传分析。ECS的使用越来越频繁，由于下一代测序（NGS）和阵列比较基因组杂交（aCGH）等技术的可用性，允许进行广泛的基因组规模分析。这里,我们报告了一对夫妇在男性伴侣家庭中接受ECS治疗的自闭症谱系障碍病例。在这对夫妇中进行了aCGH和全外显子组测序（WES）。aCGH分析在女性伴侣中确定了两个缺失涉及与行为和神经发育障碍相关的基因。在丈夫中未发现临床相关的改变。有趣的是,WES分析在男性伴侣中确定了LPL基因中的致病性变异，该变异正在成为自闭症的新候选基因。这个案例表明ECS可能在临床环境中有用，尤其是在受孕前对双方进行分析时，从而允许估计他们的风险来传递遗传条件。在另一边,有几个问题与可能的偶然发现和难以解释的结果有关.一旦通过制定具体的准则来定义这些限制，ECS可以具有更大的扩散。
