Abstract：
Variation in the non-coding genome is being increasingly recognized to be involved in monogenic disease etiology. However, the interpretation of non-coding variation is complicated by a lack of understanding of how non-coding genetic elements function. Additional lines of evidence are therefore needed to recognize non-coding variants as pathogenic. We here present a case where a collective body of evidence resulted in the identification and conclusive classification of a pathogenic deep intronic variant in ATRX. This report demonstrates the utility of a multi-platform approach in aiding the identification of pathogenic variants outside coding regions. Furthermore, it marks the first reported instance of a deep intronic pathogenic variant in ATRX.
摘要：
非编码基因组的变异越来越被认为与单基因疾病的病因有关。然而,由于缺乏对非编码遗传元件如何起作用的理解，对非编码变异的解释很复杂。因此，需要额外的证据来识别非编码变体是致病的。我们在这里介绍了一个案例，其中集体证据导致对ATRX中致病性深层内含子变体的鉴定和结论性分类。该报告证明了多平台方法在帮助识别编码区域外的致病变异中的实用性。此外，它标志着ATRX中首次报道的深部内含子致病变异体。
