Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People′s Hospital, University of Electronic Science and Technology of China, Chengdu 610072, China
Objective To investigate the genetic mutation in a Chinese family with retinitis pigmentosa disease. Methods In this experimental study, clinical features were evaluated by medical history, visual acuity measurement and multifocal electroretinogram (mfERG). Genomic DNA from peripheral blood samples of the family members was extracted. The DNA sample of the proband patient was subjected to whole exome sequencing (WES) and data analysis. Results Two affected persons were found among the five family members. Symptoms of the disease initially presented during childhood with night blindness and progressively impaired peripheral vision. Fundus examination showed retinal perivascular black bone-spicules. An electroretinogram showed a severely depressed peripheral waveform and significant loss of the paracentral retinal response. The hereditary characteristic in this family presented in two children but both of the parents were normal, suggesting an autosomal recessive pattern. Exome sequencing, mutation detection and Sanger variants validation revealed a novel homozygous splicing mutation c.1761-2A>G in the ABCA4 gene. Meanwhile, this homozygous splicing mutation was absent in 500 ethnically matched control samples screened by direct Sanger sequencing. Conclusion Our study revealed a novel homozygous splicing mutation c.1761-2A>G in the ABCA4 gene, expanding the ABCA4 mutation spectrums and may provide a new target locus for RP diagnosis and treatment.
周玉,朱雄,黄璐琳,张琳,蒋志林,陈辉,朱献军. 全外显子组测序检测到一视网膜色素变性家系ABCA4基因致病剪切新突变[J]. 中华眼视光学与视觉科学杂志, 2016, 18(3): 148-152.
Zhou Yu,Zhu Xiong,Huang Lulin,Zhang Lin,Jiang Zhilin,Chen Hui,Zhu Xianjun. Whole exome sequencing reveals a novel splicing mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa. Chinese Journal of Optometry Ophthalmology and Visual science, 2016, 18(3): 148-152. DOI: 10.3760/cma.j.issn.1674-845X.2016.03.005
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