Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Porto, Portugal.
Medical Genetics Service, Centro Hospitalar Universitário de São João, Porto, Portugal.
Neuropediatrics. 2022 Aug;53(4):265-273. doi: 10.1055/s-0042-1754162. Epub 2022 Jul 14.
Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute to chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs.A cross-sectional study was performed using the array comparative genomic hybridization database of the Genetic Department of the Faculty of Medicine. Patients with pathogenic (P) or likely pathogenic (LP) CNVs on chromosome 1 were selected for the study. Clinical information was collected for all patients. Databases and related literature were used for genotype-phenotype correlation.From a total of 2,516 patients included in the database we identified 24 patients (0.95%) with P (9 patients) or LP (15 patients) CNVs on chromosome 1. These CNVs account for 6.1% (24/392 CNVs) of the total P/LP CNVs in the database. Most common CNVs found were in the 1q21.1-1q21.2 region.This study reinforces the association between chromosome 1 CNV and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs.
拷贝数变异（CNVs）是基因组变异的主要贡献者，1 号染色体上的 CNV 存在是发病的已知原因。本研究的主要目的是通过分析 1 号染色体 CNV 的患者，为 1 号染色体疾病图谱做出贡献。本研究采用医学遗传系 array 比较基因组杂交数据库进行了一项横断面研究。选择了 1 号染色体上存在致病性（P）或可能致病性（LP）CNV 的患者进行研究。对所有患者收集了临床信息。使用数据库和相关文献进行基因型-表型相关性分析。从数据库中总共纳入的 2516 名患者中，我们鉴定出 24 名（0.95%）患者存在 1 号染色体上的 P（9 名患者）或 LP（15 名患者）CNV。这些 CNV 占数据库中总 P/LP CNV 的 6.1%（24/392 CNV）。最常见的 CNV 位于 1q21.1-1q21.2 区域。本研究进一步证实了 1 号染色体 CNV 与神经发育障碍和颅面畸形之间的关联。此外，还加强了这样的观点，即由于良性和明显致病性 CNV 之间可以识别出广泛的变异，CNV 解释并不总是一项线性任务。
