Hines Stephanie L, Agarwal Anjali, Ghandour Mohamedanwar, Aslam Nabeel, Mohammad Ahmed N, Atwal Paldeep S
1Department of Internal Medicine, Mayo Clinic, Jacksonville, FL 32224 USA.
2Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224 USA.
Hum Genome Var. 2018 Jul 10;5:15. doi: 10.1038/s41439-018-0016-8. eCollection 2018.
We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in (c.2842G>T). Both these variants in and are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches.
我们报告了两名患有局灶节段性肾小球硬化和慢性肾脏病的女性患者。第一名患者被发现存在（c.141+1G>A，IVS2+1G>A）的杂合、新发、致病变异，该变异与Alport综合征相关。第二名患者被发现存在（c.2842G>T）的杂合、可能致病变异。这两个在[基因名称未给出]中的变异均为新发现，分别通过全外显子组测序和基因panel检测检测到。此外，我们讨论了此类病例诊断的复杂性以及使用上述诊断方法的益处。
