Next generation sequencing of RB1 gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan
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RESEARCH ARTICLE
Open Access
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan Zhen Zhang1,2†, Yi-shuang Xiao3†, Ru Shen4†, Hong-chao Jiang1, Li Tan4, Ren-qiu Li4, Xiao-hong Yang4, Huai-yu Gu2* , Wen-Ji He4* and Jing Ma1,5*
Abstract Background: Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~ 30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and many eyes could be safely treated and support a lifetime of good vision. In China, approximate 1100 newly diagnosed cases are expected annually and 28 hospitals covering 25 provinces established centers classified by expertise and resources for better treatment options and followup. Comparing with other province of eastern China, Yunnan province is remote geographically. This might result that healthcare staff have low awareness of the role of genetic testing in management and screening in families. Methods: The patients with retinoblastoma were selected in Yunnan. DNA from blood was used for targeted gene sequencing. Then, an in-house bioinformatics pipeline was done to detect both single nucleotide variants and small insertions/deletions. The pathogenic mutations were identified and further confirmed by conventional methods and cosegregation in families. Results: Using our approach, targeted next generation sequencing was used to detect the mutation of these 12 probands. Bioinformatic predictions showed that nine mutations were found in our study and four were novel pathogenic variants in these nine mutations. Conclusions: It’s the first report to describe RB1 mutations in Yunnan children with retinoblastoma. This study would improve role of genetic testing for management and family screening. Keywords: Retinoblastoma, Mutations, Targeted next generation sequencing, Genetic forms
* Correspondence: [email protected]; [email protected]; [email protected] † Zhen Zhang, Yi-shuang Xiao and Ru Shen are co-author. 2 Department of Human Anatomy, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, Guangdong 510080, PR China 4 Kunming Children’s Hospital, Kunming Medical University, Kunming, Yunnan 650228, PR China 1 Key Laboratory of Childrenʼs Major Disease Research, and Yunnan Institute of Pediatrics, Kunming Childrenʼs Hospital, Kunming Medical University, Kunming, Yunnan 650228, PR China Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indica
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