Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

Content Provider	Europe PMC
Author	Li, Luting Li, Haibo Zhang, Jing Gan, Hairun Liu, Ruihong Hu, Xinyan Pang, Pengfei Li, Bing
Abstract	PurposeTo identify the spectrum of RB1 gene mutations in 114 Chinese patients with retinoblastoma.MethodsGenomic DNA was extracted from the peripheral blood of 114 Rb patients. Polymerase chain reactions (PCRs) followed by direct Sanger sequencing were used to screen for mutations in the RB1 gene, which contains 26 exons with flanking intronic sequences, except exon 15. Clinical data, including gender, age at diagnosis, laterality of ocular lesions, and associated symptoms, were recorded and compared.ResultsWe identified five novel mutations in the RB1 gene. Twenty-five other mutations found in this study have been previously reported. A higher rate of RB1 mutations, with 47.3% of mutations among bilaterally affected patients vs. 6.8% within unilaterally affected patients, was also observed (p < 0.0001). Bilaterally affected patients were diagnosed earlier when compared to unilaterally affected patients (11 ± 7 months versus 20 ± 14 months, p = 0.0002). Furthermore, nonsense mutations were abundant (n = 14), followed by frameshift mutations (n = 8), splicing site mutations (n = 5), while missense mutations were few (n = 3).ConclusionsWe found five novel mutations in RB1 genes, which expands the mutational spectrum of the gene. Children with bilateral Rb exhibited higher mutation rates and were diagnosed earlier than those with unilateral Rb. These findings will inform clinical diagnosis and genetic therapeutic targeting in Rb patients.Supplementary InformationThe online version contains supplementary material available at 10.1007/s10792-022-02341-2.
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ISSN	01655701
Journal	International Ophthalmology [Int Ophthalmol]
Volume Number	42
DOI	10.1007/s10792-022-02341-2
PubMed Central reference number	PMC9587959
Issue Number	11
PubMed reference number	35960463
e-ISSN	15732630
Language	English
Publisher	Springer Netherlands
Publisher Date	2022-08-12
Publisher Place	Dordrecht
Access Restriction	Open
Rights License	Open AccessThis 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 indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2022
Subject Keyword	RB1 Mutation Retinoblastoma Genetics
Content Type	Text
Resource Type	Article
Subject	Ophthalmology