Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa

被引:1
作者
Hiraoka, Masakazu [1 ,2 ]
Urakawa, Yusaku [1 ,3 ]
Kawai, Kanako [1 ]
Yoshida, Akiko [1 ]
Hosakawa, Junichi [4 ]
Takazawa, Masaki [4 ]
Inaba, Akira [1 ]
Yokota, Satoshi [1 ,3 ]
Hirami, Yasuhiko [1 ,3 ]
Takahashi, Masayo [1 ,5 ,6 ]
Ohara, Osamu [4 ]
Kurimoto, Yasuo [1 ,3 ]
Maeda, Akiko [1 ,3 ,6 ]
机构
[1] Kobe City Eye Hosp, Dept Ophthalmol, Kobe, Japan
[2] Kawasaki Med Sch, Dept Ophthalmol, Kurashiki, Okayama, Japan
[3] Kobe City Med Ctr Gen Hosp, Dept Ophthalmol, Kobe, Japan
[4] Kazusa DNA Res Inst, Dept Frontier Res & Dev, Lab Med Omics Res, Chiba, Japan
[5] Vis Care Inc, Kobe, Japan
[6] Ritsumeikan Univ, SR Ctr, Res Org Sci & Technol, Kyoto, Shiga, Japan
来源
PLOS ONE | 2024年 / 19卷 / 06期
基金
日本学术振兴会;
关键词
MOLECULAR DIAGNOSIS; JAPANESE PATIENTS; FREQUENT CAUSE; GENE ACCOUNT; MUTATIONS;
D O I
10.1371/journal.pone.0305812
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy and a major cause of blindness. RP is caused by several variants of multiple genes, and genetic diagnosis by identifying these variants is important for optimizing treatment and estimating patient prognosis. Next-generation sequencing (NGS), which is currently widely used for diagnosis, is considered useful but is known to have limitations in detecting copy number variations (CNVs). In this study, we re-evaluated CNVs in EYS, the main causative gene of RP, identified via NGS using multiplex ligation-dependent probe amplification (MLPA). CNVs were identified in NGS samples of eight patients. To identify potential CNVs, MLPA was also performed on samples from 42 patients who were undiagnosed by NGS but carried one of the five major pathogenic variants reported in Japanese EYS-RP cases. All suspected CNVs based on NGS data in the eight patients were confirmed via MLPA. CNVs were found in 2 of the 42 NGS-undiagnosed RP cases. Furthermore, results showed that 121 of the 661 patients with RP had EYS as the causative gene, and 8.3% (10/121 patients with EYS-RP) had CNVs. Although NGS using the CNV calling criteria utilized in this study failed to identify CNVs in two cases, no false-positive results were detected. Collectively, these findings suggest that NGS is useful for CNV detection during clinical diagnosis of RP.
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页数:10
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