| 발표일자: |
2019년 4월 5일(금)~7(일) |
| 발표번호: |
P(e-poster)-259 |
| 발표장소: |
벡스코 전시장 1홀 내 |
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| A novel compound heterozygous mutation of RP1L1 revealed by whole exome sequencing in a Korean patient with autosomal recessive retinitis pigmentosa |
| (1) Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, (2) Samsung Genome Institute, (3) Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, (4) Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea |
| Sang Jin Kim (1), Ah Reum Kim (2), Woong-Yang Park (2, 3), Byoung Joon Kim (4) |
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Purpose : Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations characterized by progressive dysfunction of photoreceptors with nyctalopia, visual field constriction and vision loss. Mutations in RP1L1 gene have been associated with occult macular dystrophy and autosomal recessive retinitis pigmentosa (arRP). Herein, we aimed to report a case of a novel compound heterozygous mutation of RP1L1 in a Korean patient with arRP.
Methods : Comprehensive ophthalmologic examinations including full-field electroretinogram, fundus autofluorescence photography, and optical coherence tomography were performed. Whole exome sequencing was done using Illumina HiSeq4000 platform. Sanger sequencing was done to verify variants of interest in the proband and family members.
Results : Whole exome sequencing revealed a compound heterozygous mutation in RP1L1 (c.A331G and c.324_325insT). Based on ACMG recommendations, c.324_325insT can be classified as a “pathogenic” variant and c.A331G as a “likely pathogenic” variant. Both of the parents have one of the two variants each.
Conclusion : A novel compound heterozygous mutation of RP1L1 was revealed by whole exome sequencing in a Korean patient with arRP.
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