Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy
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Li-Ping Yang. Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China. alexlipingyang@bjmu.edu.cn; Gen-Lin Li. Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China. ligenglin@263.net

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Supported by the National Natural Science Foundation of China (No.81770966; No.81470666; No.81271046); a Joint Program of Beijing Municipal Natural Science Foundation (Category B) and Beijing Educational committee (No.KZ201510025025).

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    Abstract:

    AIM: To describe the complex, overlapping phenotype of four Chinese patients with inherited retinal dystrophies (IRDs) who harbored two pathogenic genes simultaneously. METHODS: This retrospective study included 4 patients affected with IRDs. Medical and ophthalmic histories were obtained, and clinical examinations were performed. A specific Hereditary Eye Disease Enrichment Panel (HEDEP) based on exome capture technology was used for genetic screening. RESULTS: Four patients were identified to harbor disease-causing variants in two different genes. Patient retinitis pigmentosa (RP) 01-II:1 exhibited both classical ABCA4 -induced Stargardt disease (STGD) 1 and USH2A-associated RP, patient RP02-III:2 exhibited both classical ABCA4-induced STGD1 and CDH23-associated RP, patient RP03-II:1 exhibited both USH2A-induced autosomal recessive retinitis pigmentosa (arRP) syndrome and SNRNP200-induced autosomal dominant retinitis pigmentosa (adRP), and patient RP04- II:2 exhibited USH2A-induced arRP syndrome and EYS-induced arRP at the same time. CONCLUSION: Our study demonstrates that genotype–phenotype correlations and comprehensive genetic screening is crucial for diagnosing IRDs and helping family planning for patients suffering from the disease.

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Liu XZ, Tao TC, Qi H, Feng SN, Chen NN, Zhao L, Ma ZZ, Li GL, Yang LP. Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy. Int J Ophthalmol 2020;13(2):220-230

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Publication History
  • Received:November 01,2018
  • Revised:December 07,2019
  • Adopted:
  • Online: February 03,2020
  • Published: