The Bloom Syndrome and Retinoblastoma Patient Exhibits Two Rb1 Gene Mutations in the Germline
Year: 2024
Type: article
Study design: Case Report
Abstract: PURPOSE: To report the case of a patient with Bloom syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline. METHODS: The patient underwent an ultrasound study, followed by enucleation of the left eye. Peripheral venous blood samples were collected to isolate mononuclear cells for total RNA and DNA extraction. Subsequently, cDNA synthesis and revers transcription-quantitave PCR were performed. The DNA was used for polymerase chain reaction amplification of the 27 exons. The sequence of the exons of RB1 was analyzed. RESULTS: The patient with Bloom syndrome and retinoblastoma underwent treatment, and blood samples from the patient and a family member were analyzed. The results revealed two germline mutations on Exons 13 and 17. The levels of RB1 mRNA were found to be low than those of a healthy control and a family member. CONCLUSION: Without a family history of cancer, a patient with retinoblastoma and Bloom syndrome presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient's risk of developing another type of cancer throughout his life.
Source: Retinal Cases & Brief Reports
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4404230892