Tendi Elisabetta Anna, Morello Giovanna, Guarnaccia Maria, La Cognata Valentina, Petralia Salvatore, Messina Maria Anna, Meli Concetta, Fiumara Agata, Ruggieri Martino, Cavallaro Sebastiano
Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Department of Drug and Health Sciences, University of Catania, 95125 Catania, Italy.
Biomedicines. 2023 Jul 4;11(7):1899. doi: 10.3390/biomedicines11071899.
Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and allelic heterogeneity, next-generation sequencing (NGS) technology may help to identify the molecular basis of this genetic disease. Herein, we describe the development and validation of a targeted NGS (tNGS) approach for the simultaneous detection of single-nucleotide changes and copy number variations (CNVs) in genes associated with HPA (, , , , , ) or useful for its differential diagnosis (). Our tNGS approach offers the possibility to detail, with a high accuracy and in a single workflow, the combined effect of a broader spectrum of genomic variants in a comprehensive view, providing a significant step forward in the development of optimized patient care and management.
高苯丙氨酸血症（HPA）是最常见的遗传性氨基酸代谢紊乱疾病，具有严重的临床表现，包括不可逆的脑损伤、智力缺陷和癫痫。由于其广泛的基因和等位基因异质性，下一代测序（NGS）技术可能有助于确定这种遗传病的分子基础。在此，我们描述了一种靶向NGS（tNGS）方法的开发和验证，该方法可同时检测与HPA相关的基因（、、、、、）中的单核苷酸变化和拷贝数变异（CNV），或对其鉴别诊断有用的基因（）。我们的tNGS方法提供了一种可能性，即在单一工作流程中以高精度详细描述更广泛基因组变异的综合效应，在优化患者护理和管理的发展方面向前迈出了重要一步。
