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Clinical and genetic investigations in Chinese families with retinitis pigmentosa

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机构: [1]Jinan Univ, Shenzhen Eye Hosp, Shenzhen Key Lab Ophthalmol, Affiliated Shenzhen Eye Hosp, Shenzhen 518040, Guangdong, Peoples R China [2]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Ophthalmol & Visual Sci Key Lab, Beijing 100005, Peoples R China
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关键词: Retinitis pigmentosa gene novel mutations Chinese patients targeted high-throughput DNA sequencing clinical features

摘要:
To describe clinical and genetic characteristics in a series of Chinese patients with non-syndromic retinitis pigmentosa, a total of 20 unrelated Chinese pedigrees with non-syndromic retinitis pigmentosa were evaluated. Complete ophthalmic examinations data including the Humphrey visual field, spectral domain-optical coherence tomography, full-field electroretinography, and fundus fluorescence were collected and analyzed. Targeted exome sequencing was utilized to investigate variations in 260 known genes of inherited retinal disease, including the 90 known causative retinitis pigmentosa genes. We initially identified the potential candidate variants in the pedigrees, then validated the variants using the Sanger sequencing and performed segregation analysis to verify that the variants constituted disease-causing mutations in these pedigrees. We detected three novel (likely) pathogenic and eight previously reported (likely) pathogenic variations in nine genes reported to be related to non-syndromic retinitis pigmentosa in nine of the pedigrees. We report clinical characteristics of Chinese patients with retinitis pigmentosa and novel mutations responsible for non-syndromic retinitis pigmentosa in Chinese pedigrees, expanding the number of gene mutations associated with this disorder and clarifying its genetic basis in the Chinese population. These data will help with rapid and efficient molecular diagnosis and the study of targeted treatment for retinitis pigmentosa in this population.

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出版当年[2021]版:
大类 | 4 区 医学
小类 | 4 区 医学:研究与实验
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 医学:研究与实验
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出版当年[2020]版:
Q3 MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版:
Q2 MEDICINE, RESEARCH & EXPERIMENTAL

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第一作者机构: [1]Jinan Univ, Shenzhen Eye Hosp, Shenzhen Key Lab Ophthalmol, Affiliated Shenzhen Eye Hosp, Shenzhen 518040, Guangdong, Peoples R China
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