{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T02:16:04Z","timestamp":1784254564899,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T00:00:00Z","timestamp":1691366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the <jats:italic>RB1<\/jats:italic> gene. Early genetic screening for <jats:italic>RB1<\/jats:italic> gene mutations would greatly improve treatment outcomes and patient management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, both somatic and germline mutations were detected in blood and tumour samples of 42 RB patients using direct sequencing and multiplex ligation\u2010dependent probe amplification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 34 different mutations were found in 36 patients, including 1 SNP, 4 large deletions, 5 splicing sites, 1 missense, 7 frameshifts and 17 nonsense mutations. There were five novel mutations and one unreported which have not been found in large databases such as Leiden Open Variation Database (LOVD) and ClinVar.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A higher rate of RB patients carrying heterozygous germline mutation and highly prevalent with pathogenic truncated mutation, hence, early detection of RB is essential for vision salvation and genetic counselling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2244","type":"journal-article","created":{"date-parts":[[2023,8,7]],"date-time":"2023-08-07T12:09:05Z","timestamp":1691410145000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mutation spectrum of retinoblastoma patients in Vietnam"],"prefix":"10.1002","volume":"11","author":[{"given":"Dao Nguyen Ha","family":"Linh","sequence":"first","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"},{"name":"National Institute of Ophthalmology  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen","family":"Van\u00a0Huy","sequence":"additional","affiliation":[{"name":"National Institute of Ophthalmology  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5527-7360","authenticated-orcid":false,"given":"Phuoc\u2010Dung","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phuong","family":"Le\u00a0Thi","sequence":"additional","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoang Anh","family":"Tuan","sequence":"additional","affiliation":[{"name":"National Institute of Ophthalmology  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trong","family":"Van\u00a0Nguyen","sequence":"additional","affiliation":[{"name":"National Institute of Ophthalmology  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thu Ha","family":"Tran","sequence":"additional","affiliation":[{"name":"National Institute of Ophthalmology  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai Anh","family":"Tran","sequence":"additional","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanh Dat","family":"Ta","sequence":"additional","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan L. 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