The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline.

Martha Rangel-Charqueño, Cynthia Soto Flores, Mayra Martínez Sánchez Dra, Mariana Moctezuma-Dávila, Vanesa Olivares Illana Dra
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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 RT-qPCR were performed. The DNA was used for PCR amplification of the 27 exons. The sequence of the exons of RB1 was analysed.

Results: The patient with Bloom Syndrome (BS) and retinoblastoma underwent treatment, and blood samples from the patient and a family member were analysed. The results revealed two germline mutations on exons 13 and 17. The levels of RB1 mRNA were found to be low compared to those of a healthy control and a family member.

Conclusion: Without a family history of cancer, a patient with retinoblastoma and BS 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.

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布卢姆综合征和视网膜母细胞瘤患者的种系中有两个 RB1 基因突变。
目的:从遗传学角度报告一例布卢姆综合征和视网膜母细胞瘤患者。该患者的种系中有两个 RB1 基因突变:患者接受了超声波检查,随后进行了左眼去核手术。采集外周静脉血样本,分离单核细胞,提取总核糖核酸(RNA)和脱氧核糖核酸(DNA)。随后进行 cDNA 合成和 RT-qPCR。DNA 被用于对 27 个外显子进行 PCR 扩增。对 RB1 外显子的序列进行了分析:对布卢姆综合征(BS)和视网膜母细胞瘤患者进行了治疗,并对患者和一名家属的血液样本进行了分析。结果显示,外显子 13 和 17 上存在两个种系突变。与健康对照组和一名家庭成员相比,RB1 mRNA 的水平较低:结论:在没有癌症家族史的情况下,视网膜母细胞瘤和 BS 患者的 RB1 基因种系出现了两个突变;这导致患者全身的 RB1 mRNA 水平非常低,从而增加了患者终生罹患其他类型癌症的风险。
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Retinal Cases and Brief Reports
Retinal Cases and Brief Reports Medicine-Ophthalmology
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342
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