Görükmez Orhan, Görükmez Özlem, Topak Ali, Arsoy Hanife Ayşegül
Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, TUR.
Medical Genetics, Bursa State Hospital, Bursa, TUR.
Cureus. 2025 Mar 10;17(3):e80330. doi: 10.7759/cureus.80330. eCollection 2025 Mar.
The development of genomic sequencing techniques has led to the effective diagnosis of genetic diseases. In this study, clinical exome sequencing (CES) results applied to genetic disorders are reported.
The CES results of pediatric patients with different system involvements and whose complaints were thought to be of genetic origin were evaluated retrospectively.
Significant variants associated with complaints were detected in 41 (60%) of 68 patients. Copy number variations were detected in two patients, and single nucleotide variants (SNVs) were detected in the other 39 patients. A total of 46 SNVs were detected in these 39 patients. Sixteen of the detected SNVs were previously reported in the literature, but 30 were novel.
This study shows that CES can provide a high diagnosis rate (60%) in childhood genetic diseases. Novel mutations (30) have contributed to the mutation profiles of genetic disorders.
基因组测序技术的发展已实现对遗传疾病的有效诊断。本研究报告了应用于遗传疾病的临床外显子组测序（CES）结果。
对不同系统受累且主诉被认为源于遗传因素的儿科患者的CES结果进行回顾性评估。
68例患者中的41例（60%）检测到与主诉相关的显著变异。两名患者检测到拷贝数变异，其他39例患者检测到单核苷酸变异（SNV）。这39例患者共检测到46个SNV。检测到的SNV中有16个先前已在文献中报道，但30个是新发现的。
本研究表明，CES在儿童遗传疾病中可提供较高的诊断率（60%）。新突变（30个）丰富了遗传疾病的突变谱。
