RB1 transcript analysis detects novel splicing aberration in retinoblastoma

Pediatric Blood & CancerVolume 70, Issue 6 e30290 LETTER TO THE EDITOR RB1 transcript analysis detects novel splicing aberration in retinoblastoma Kumar Jeyaprakash, Kumar Jeyaprakash Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India Department of Molecular Biology, Aravind Medical Research Foundation, Affiliated to Alagappa University, Karaikudi, Tamil Nadu, IndiaSearch for more papers by this authorKannan Thirumalairaj, Kannan Thirumalairaj Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, IndiaSearch for more papers by this authorUsha Kim, Usha Kim Department of Orbit, Oculoplasty and Oncology, Aravind Eye Hospital, Madurai, Tamil Nadu, IndiaSearch for more papers by this authorVeerappan Muthukkaruppan, Veerappan Muthukkaruppan Department of Stem Cell Biology and Immunology, Aravind Medical Research Foundation, Madurai, Tamil Nadu, IndiaSearch for more papers by this authorAyyasamy Vanniarajan, Corresponding Author Ayyasamy Vanniarajan [email protected] orcid.org/0000-0002-4462-1760 Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India Department of Molecular Biology, Aravind Medical Research Foundation, Affiliated to Alagappa University, Karaikudi, Tamil Nadu, India Correspondence Dr. Ayyasamy Vanniarajan, Department of Molecular Genetics, Aravind Medical Research Foundation, 1, Anna Nagar, Madurai, Tamil Nadu 625 020, India. Email: [email protected]Search for more papers by this author Kumar Jeyaprakash, Kumar Jeyaprakash Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India Department of Molecular Biology, Aravind Medical Research Foundation, Affiliated to Alagappa University, Karaikudi, Tamil Nadu, IndiaSearch for more papers by this authorKannan Thirumalairaj, Kannan Thirumalairaj Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, IndiaSearch for more papers by this authorUsha Kim, Usha Kim Department of Orbit, Oculoplasty and Oncology, Aravind Eye Hospital, Madurai, Tamil Nadu, IndiaSearch for more papers by this authorVeerappan Muthukkaruppan, Veerappan Muthukkaruppan Department of Stem Cell Biology and Immunology, Aravind Medical Research Foundation, Madurai, Tamil Nadu, IndiaSearch for more papers by this authorAyyasamy Vanniarajan, Corresponding Author Ayyasamy Vanniarajan [email protected] orcid.org/0000-0002-4462-1760 Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India Department of Molecular Biology, Aravind Medical Research Foundation, Affiliated to Alagappa University, Karaikudi, Tamil Nadu, India Correspondence Dr. Ayyasamy Vanniarajan, Department of Molecular Genetics, Aravind Medical Research Foundation, 1, Anna Nagar, Madurai, Tamil Nadu 625 020, India. Email: [email protected]Search for more papers by this author First published: 14 March 2023 https://doi.org/10.1002/pbc.30290Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971; 68(4): 820- 823. 2Dimaras H. Retinoblastoma genetics in India: from research to implementation. Indian J Ophthalmol. 2015; 63(3): 219- 226. 3Tomar S, Sethi R, Sundar G, Quah TC, Quah BL, Lai PS. 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Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. Hum Mutat. 2008; 29(4): 475- 484. 9Parsam VL, Ali MJ, Honavar SG, Vemuganti GK, Kannabiran C. Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma. J Biosci. 2011; 36(2): 281- 287. 10Dehainault C, Michaux D, Pagès-Berhouet S, et al. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet. 2007; 15(4): 473- 477. 11Soliman SE, Racher H, Lambourne M, Matevski D, MacDonald H, Gallie B. A novel deep intronic low penetrance RB1 variant in a retinoblastoma family. Ophthalmic Genet. 2018; 39(2): 288- 290. 12McEvoy J, Nagahawatte P, Finkelstein D, et al. RB1 gene inactivation by chromothripsis in human retinoblastoma. Oncotarget. 2014; 5(2): 438- 450. Volume70, Issue6June 2023e30290 ReferencesRelatedInformation