Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.
J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13.
Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the direct diagnosis of certain types of congenital disorders of glycosylation. Another indispensable tool is the use of clinical pattern recognition-or syndromology-relying on careful phenotyping. While genomics might uncover variants not essential in the final clinical expression of disease, and metabolomics could point to a mixture of primary but also secondary changes in biochemical pathways, phenomics describes the clinically relevant manifestations and the full expression of the disease. In the current review we apply phenomics to the field of congenital disorders of glycosylation, focusing on recognizable differentiating findings in glycosylation disorders, characteristic dysmorphic features and malformations in PMM2-CDG, and overlapping patterns among the currently known glycosylation disorders based on their pathophysiological basis.
模式识别是一种强大的工具，它使用一组特征或鉴别特征来进行代谢诊断。这种方法的一个经典例子是在尿液有机酸分析的生化分析中使用，其中报告更多地依赖于相关阳性和阴性发现的相关性，而不是特定标志物的绝对值。在生化遗传学领域中，类似地使用模式识别包括对代谢组学（如聚糖组学）数据的解释，其中可识别的模式或特定聚糖亚部分的存在可以直接诊断某些类型的糖基化先天性疾病。另一个不可或缺的工具是使用临床模式识别或综合征学，依赖于仔细的表型分析。虽然基因组学可能会发现对疾病最终临床表型不重要的变异，而代谢组学可能会指出生化途径中主要但也有次要变化的混合物，但表型组学描述了临床上相关的表现和疾病的完全表达。在当前的综述中，我们将表型组学应用于糖基化先天性疾病领域，重点关注糖基化疾病中可识别的鉴别发现、PMM2-CDG 中的特征性畸形特征和畸形以及基于病理生理学基础的当前已知糖基化疾病之间的重叠模式。
