S-Space College of Medicine/School of Medicine (의과대학/대학원) Ophthalmology (안과학전공) Journal Papers (저널논문_안과학전공)
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa
- Yoon, Chang-Ki; Kim, Nayoung K.D.; Joung, Je-Gun; Shin, Joo Young; Park, Jung Hyun; Eum, Hye-Hyun; Lee, Hae-ock; Park, Woong-Yang; Yu, Hyeong Gon
- Issue Date
- BioMed Central
- BMC Genomics, 16(1):515
- Retinitis pigmentosa; Targeted re-sequencing; Genetic diagnosis; Familial case; Sporadic case
- This is an Open Access article distributed under the terms of the Creative Commons Attribution License
(http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium,
provided the original work is properly credited.
Identification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefore, high throughput genetic testing using massively parallel sequencing is needed.
Sixty-two Korean patients with nonsyndromic RP (46 patients from 18 families and 16 simplex cases) who consented to molecular genetic testing were recruited in this study and targeted exome sequencing was applied on 53 RP-related genes. Causal variants were characterised by selecting exonic and splicing variants, selecting variants with low allele frequency (below 1 %), and discarding the remaining variants with quality below 20. The variants were additionally confirmed by an inheritance pattern and cosegregation test of the families, and the rest of the variants were prioritised using in-silico prediction tools. Finally, causal variants were detected from 10 of 18 familial cases (55.5 %) and 7 of 16 simplex cases (43.7 %) in total. Novel variants were detected in 13 of 20 (65 %) candidate variants. Compound heterozygous variants were found in four of 7 simplex cases.
Panel-based targeted re-sequencing can be used as an effective molecular diagnostic tool for RP.