Department of Ophthalmology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Uijeongbu 11765, Republic of Korea.
Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Republic of Korea.
Genes (Basel). 2024 Sep 30;15(10):1290. doi: 10.3390/genes15101290.
element insertion in the exon 4 of the gene was newly identified through whole genome sequencing (WGS). This was not detected in previous next-generation sequencing (NGS) analysis. We report three cases of Korean retinitis pigmentosa (RP) patients with compound heterozygous variants including element insertion in the gene, indicating that element insertion could be a cause of RP; Among patients diagnosed with RP having variants in the gene in the Asan Medical Center, WGS was additionally performed for genetically unsolved cases in previous NGS analysis to detect any presence of element insertion. For cases detected to have element insertion in the exon 4 of the gene, genetic and clinical characteristics were analyzed; : Among 16 patients with RP, 3 patients were detected to have element insertion in the gene. element insertion in the gene was also detected using WGS. It was revealed to be a pathogenic variant. Therefore, gene mutation was the confirmed genetic cause of RP for these three cases and genetic counseling was enabled for them; : element insertion in the gene could be a genetic cause of autosomal recessive RP patients with compound heterozygous variants. Through WGS, the identification of this pathogenic variant was possible. Confirmation is needed to check the presence of element insertion in patients with compound heterozygous variants in the gene.
通过全基因组测序（WGS）新发现了基因外显子 4 中的元件插入。这在先前的下一代测序（NGS）分析中未被检测到。我们报告了 3 例韩国色素性视网膜炎（RP）患者的复合杂合变异，包括基因中的元件插入，表明元件插入可能是 RP 的原因之一；在 Asan 医疗中心诊断为 RP 的患者中，对于先前 NGS 分析中基因未解决的病例，额外进行了 WGS 以检测是否存在元件插入。对于在外显子 4 中检测到基因插入的病例，分析了其遗传和临床特征；在 16 例 RP 患者中，有 3 例患者的基因中检测到元件插入。WGS 还检测到了基因中的元件插入。它被揭示为一种致病性变异。因此，对于这 3 例患者，基因突变为 RP 的明确遗传原因，并为他们提供了遗传咨询；基因中的元件插入可能是携带复合杂合变异的常染色体隐性 RP 患者的遗传原因。通过 WGS，可以识别这种致病性变异。需要进一步确认是否存在基因中的复合杂合变异患者的元件插入。
