A novel deep intronic low penetrance RB1 variant in a retinoblastoma family

Ophthalmic Genet. 2018 Apr;39(2):288-290. doi: 10.1080/13816810.2017.1393828. Epub 2017 Nov 3.

Authors

Sameh E Soliman^{1

2}, Hilary Racher³, Melissa Lambourne³, Donco Matevski³, Heather MacDonald¹, Brenda Gallie¹

Affiliations

¹ a The Department of Ophthalmology and Vision Sciences , Hospital for Sick Children, University of Toronto , Toronto , Ontario , Canada.
² b The Department of Ophthalmology, Faculty of Medicine , University of Alexandria , Alexandria , Egypt.
³ c Impact Genetics , Bowmanville , Ontario , Canada.

PMID: 29099630
DOI: 10.1080/13816810.2017.1393828

No abstract available

Publication types

Case Reports

MeSH terms

Antineoplastic Combined Chemotherapy Protocols / therapeutic use
Carboplatin / therapeutic use
Etoposide / therapeutic use
Female
Humans
Infant
Introns / genetics*
Mutation*
Pedigree
Penetrance
Retinal Neoplasms / diagnosis
Retinal Neoplasms / drug therapy
Retinal Neoplasms / genetics*
Retinoblastoma / diagnosis
Retinoblastoma / drug therapy
Retinoblastoma / genetics*
Retinoblastoma Binding Proteins / genetics*
Ubiquitin-Protein Ligases / genetics*
Vincristine / therapeutic use
Young Adult

Substances

RB1 protein, human
Retinoblastoma Binding Proteins
Vincristine
Etoposide
Carboplatin
Ubiquitin-Protein Ligases

Supplementary concepts

CEV regimen