Advanced search
Publication Cover
Ophthalmic Genetics Volume 43, 2022 - Issue 6: Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD
Submit an article Journal homepage
111
Views
1
CrossRef citations to date
0
Altmetric
Research Report

Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma

Ola M. Eida Human Cytogenetics Department, National Research Centre, Cairo, EgyptCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-3898-7117View further author information
ORCID Icon,
Hosam El Zomorb Pediatric Department, Children’s Cancer Hospital, Cairo, Egypt;c Pediatric Oncology Department, National Cancer Institute, Cairo University, Cairo, EgyptView further author information
,
Amal M. Mohameda Human Cytogenetics Department, National Research Centre, Cairo, EgyptView further author information
,
Hala T. El-Bassyounid Clinical Genetics Department, National Research Centre, Cairo, EgyptORCID Iconhttps://orcid.org/0000-0001-9825-1219View further author information
ORCID Icon,
Hanan H. Afifid Clinical Genetics Department, National Research Centre, Cairo, EgyptView further author information
,
Moatasem El-Ayadib Pediatric Department, Children’s Cancer Hospital, Cairo, Egypt;c Pediatric Oncology Department, National Cancer Institute, Cairo University, Cairo, EgyptView further author information
,
Sherin H. Sadeke Ophthalmology Department, Children's Cancer Hospital, Egypt;f Ophthalmology Department, Fayoum University, Faiyum, EgyptView further author information
,
Saida A. Hammada Human Cytogenetics Department, National Research Centre, Cairo, EgyptView further author information
,
Sherine I. Salemg Clinical Pathology Department, Children's Cancer Hospital, Egypt;h Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, EgyptView further author information
,
Rana Mahrousa Human Cytogenetics Department, National Research Centre, Cairo, EgyptView further author information
,
Islam M. Fadela Human Cytogenetics Department, National Research Centre, Cairo, EgyptView further author information
,
Khaled Refaata Human Cytogenetics Department, National Research Centre, Cairo, EgyptView further author information
,
Mahmoud A. Afifii Research Department, Children's Cancer Hospital, EgyptView further author information
,
Abdallah E. Shelile Ophthalmology Department, Children's Cancer Hospital, Egypt;j Ophthalmology Department, Al-Azhar University, Cairo, EgyptView further author information
,
Othman A. O. Zikok Ophthalmology Department, Ain Shams University, Cairo, EgyptView further author information
,
Amira A. Abdel Azeeml Ophthalmic Genetics Department, Research Institute of Ophthalmology, Cairo, EgyptView further author information
&
Alaa El-Haddadb Pediatric Department, Children’s Cancer Hospital, Cairo, Egypt;c Pediatric Oncology Department, National Cancer Institute, Cairo University, Cairo, EgyptView further author information
 show all
Pages 789-794 | Received 15 Feb 2022, Accepted 14 Aug 2022, Published online: 13 Sep 2022

References

  • Mohammed AM, Kamel AK, Hammad SA, Afifi HH, El Sanabary Z, El Din ME. Constitutional retinoblastoma gene deletion in Egyptian patients. World J Pediatr. 2009;5(3):222–25. doi:10.1007/s12519-009-0042-1.
  • He MY, An Y, Gao YJ, Qian XW, Li G, Qian J. Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. Mol Vis. 2014;20:545–52.
  • El Zomor H, Nour R, Alieldin A, Taha H, Montasr MM, Moussa E, El Nadi E, Ezzat S, Alfaar AS. Clinical presentation of intraocular retinoblastoma; 5-year hospital-based registry in Egypt. J Egypt Natl Canc Inst. 2015; 27(4):95–203. doi:10.1016/j.jnci.2015.09.002.
  • ElZomor H, Taha H, Aleieldin A, Nour R, Zaghloul MS, Fawzi M, Kamel A, Alfaar AS. High risk retinoblastoma: prevalence and success of treatment in developing countries. Ophthalmic Genet. 2015;36(3):287–89. doi:10.3109/13816810.2015.1016241.
  • Thirumalairaj K, Abraham A, Devarajan B, Gaikwad N, Kim U, Muthukkaruppan V, Vanniarajan A. A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. J Hum Genet. 2015;60(9):547–52. doi:10.1038/jhg.2015.62.
  • Mohd Khalid MKN, Yakob Y, Md Yasin R, Wee Teik K, Siew CnG, Rahmat J, Ramasamy S, Alagaratnam J. Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. Mol Vis. 2015;21:1185–90.
  • Mallipatna A, Marino M, Singh AD. Genetics of retinoblastoma. Asia-Pacific J Oph. 2016;5(4):260–64. doi:10.1097/apo.0000000000000219.
  • Soliman SE, ElManhaly M, Dimaras H. Knowledge of genetics in familial retinoblastoma. Ophthalmic Genet. 2017;38(3):226–32. doi:10.1080/13816810.2016.1195846.
  • Dittner-Moormann S, Reschke M, Biewald E, Kuechler A, Klein B, Timmermann B, Lohmann D, Ketteler P, Kanber D. 13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping. Mol Cytogenet. 2020;13:31–38. doi:10.1186/s13039-020-00500-7.
  • Ahani A, Akbari MT, Saliminejad K, Behnam B, Akhondi MM, Vosoogh P, Ghassemi F, Naseripour M, Bahoush G, Khorshid HRK. Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification. Mol Vis. 2013;19:454–62.
  • El Zomor H, Nour R, Saad A, Taha H, Shelil AE, Aleieldin A, Saad Zaghloul M, Alfaar AS. Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients. Eye. 2021;35(9):2564–72. doi:10.1038/s41433-020-01275-2.
  • Durmaz AA, Karaca E, Demkow U, Toruner G, Schoumans J, Cogulu O. Evolution of genetic techniques: past, present, and beyond. Biomed Res Int. 2015;2015:461524–29. doi:10.1155/2015/461524.
  • Eid O. Molecular cytogenetic techniques for identification of copy-number variations. Mid East J Med Genetics. 2017;6:1–12. doi:10.1097/01.MXE.0000510784.43101.7a.
  • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(12):e57–e59. doi:10.1093/nar/gnf056.
  • Stuppia L, Antonucci I, Palka G, Gatta V. Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. Int J Mol Sci. 2012;13(3):3245–76. doi:10.3390/ijms13033245.
  • Abdool A, Donahue AC, Wohlgemuth JG, Detection Y-C-H. Analysis and clinical validation of chromosomal aberrations by multiplex ligation-dependent probe amplification in chronic leukemia. Plos One. 2010;5(10):e15407. doi:10.1371/journal.pone.0015407.
  • Al Zaabi EA, Fernandez LA, Sadek IA, Riddell DC, Greer WL. Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience. J Mol Diagn. 2010;12(2):197–203. doi:10.2353/jmoldx.2010.090046.
  • Quiñonez-Silva G, Dávalos-Salas M, Recillas-Targa F, Ostrosky-Wegman P, Aranda D, Benítez-Bribiesca L. Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma. Clin Epigenetics. 2016;8. doi:10.1186/s13148-015-0167-0.
  • Anwar SL, Lehmann U. Detection of aberrant DNA methylation patterns in the RB1 gene. Methods Mol Biol. 2018;1726:35–47. doi:10.1007/978-1-4939-7565-5_5.
  • Moelans CB, Atanesyan L, Savola SP, van Diest PJ. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Methods Mol Biol. 2018;1708:537–49. doi:10.1007/978-1-4939-7481-8_27.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.