Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Nov;11(11):e2244.
doi: 10.1002/mgg3.2244. Epub 2023 Aug 7.

Mutation spectrum of retinoblastoma patients in Vietnam

Dao Nguyen Ha Linh  1   2 , Nguyen Van Huy  2 , Phuoc-Dung Nguyen  1 , Phuong Le Thi  1 , Hoang Anh Tuan  2 , Trong Van Nguyen  2 , Thu Ha Tran  2 , Hai Anh Tran  1 , Thanh Dat Ta  1 , Tuan L A Pham  1 , The-Hung Bui  1   3 , Thinh Huy Tran  1   4 , Thanh Van Ta  1   4 , Van-Khanh Tran  1
Affiliations

Mutation spectrum of retinoblastoma patients in Vietnam

Dao Nguyen Ha Linh et al. Mol Genet Genomic Med. 2023 Nov.

Abstract

Background: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management.

Methods: 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-dependent probe amplification.

Results: 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.

Conclusion: 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.

Keywords: MLPA; RB1 gene; mutation; retinoblastoma; sequencing.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Somatic mutations of the RB1 gene found in 42 patients, with frequently found mutations (black in bold) and new mutations (red in bold).
See this image and copyright information in PMC

References

    1. Abouzeid, H. , Munier, F. L. , Thonney, F. , & Schorderet, D. F. (2007). Ten novel RB1 gene mutations in patients with retinoblastoma. Molecular Vision, 13, 1740–1745. http://www.molvis.org/molvis/v13/a194 - PubMed
    1. Ali, M. J. , Honavar, S. G. , & Reddy, V. A. (2013). Distant metastatic retinoblastoma without central nervous system involvement. Indian Journal of Ophthalmology, 61(7), 357. 10.4103/0301-4738.97077 - DOI - PMC - PubMed
    1. Berry, J. L. , Polski, A. , Cavenee, W. K. , Dryja, T. P. , Linn Murphree, A. , & Gallie, B. L. (2019). The RB1 story: Characterization and cloning of the first tumor suppressor gene. Genes, 10(11), 879. 10.3390/GENES10110879 - DOI - PMC - PubMed
    1. Blixt, M. K. E. , Hellsand, M. , Konjusha, D. , Zhang, H. , Stenfelt, S. , Åkesson, M. , Rafati, N. , Tararuk, T. , Stålhammar, G. , All‐Eriksson, C. , Ring, H. , & Hallböök, F. (2022). MYCN induces cell‐specific tumorigenic growth in RB1‐proficient human retinal organoid and chicken retina models of retinoblastoma. Oncogenesis, 11(1), 1–13. 10.1038/s41389-022-00409-3 - DOI - PMC - PubMed
    1. Broaddus, E. , Topham, A. , & Singh, A. D. (2009). Incidence of retinoblastoma in the USA: 1975–2004. The British Journal of Ophthalmology, 93(1), 21–23. 10.1136/BJO.2008.138750 - DOI - PubMed

Associated data

LinkOut - more resources