Abstract：
Next-generation phenotyping (NGP) is an application of advanced methods of computer vision on medical imaging data such as portrait photos of individuals with rare disorders. NGP on portraits results in gestalt scores that can be used for the selection of appropriate genetic tests, and for the interpretation of the molecular data. Here, we report on an exceptional case of a young girl that was presented at the age of 8 and 15 and enrolled in NGP diagnostics on the latter occasion. The girl had clinical features associated with Koolen-de Vries syndrome (KdVS) and a suggestive facial gestalt. However, chromosomal microarray (CMA), Sanger sequencing, multiplex ligation-dependent probe analysis (MLPA), and trio exome sequencing remained inconclusive. Based on the highly indicative gestalt score for KdVS, the decision was made to perform genome sequencing to also evaluate noncoding variants. This analysis revealed a 4.7 kb de novo deletion partially affecting intron 6 and exon 7 of the KANSL1 gene. This is the smallest reported structural variant to date for this phenotype. The case illustrates how NGP can be integrated into the iterative diagnostic process of test selection and interpretation of sequencing results.
摘要：
下一代表型分析（NGP）是一种先进的计算机视觉方法在医学成像数据上的应用，例如罕见疾病患者的肖像照片。NGP对肖像的结果是格式塔分数，可用于选择适当的基因测试，以及对分子数据的解释。这里,我们报道了一例特殊病例,即一名年轻女孩在8岁和15岁时就诊,并在后一种情况下参加了NGP诊断.该女孩具有与Koolen-deVries综合征（KdVS）相关的临床特征和暗示性面部完形。然而,染色体微阵列（CMA），桑格测序,多重连接依赖性探针分析（MLPA），和三外显子组测序仍然没有定论。根据KdVS的高度指示性格式塔得分，我们决定进行基因组测序以评估非编码变异.该分析显示4.7kb从头缺失部分影响KANSL1基因的内含子6和外显子7。这是迄今为止报道的该表型的最小结构变体。该案例说明了如何将NGP整合到测试选择和测序结果解释的迭代诊断过程中。
