M Virijevic, I Marjanovic, M Andjelkovic, Lj Jakovic, D Micic, A Bogdanovic, S Pavlovic
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引用次数: 0
Abstract
Telomerase Reverse Transcriptase (TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mutated gene in patients with telomeropathies. Heterozygous variants impair telomerase activity by haploinsufficiency and pathogenic variants are associated with bone marrow failure syndrome and predisposition to acute myeloid leukaemia. Owing to their rarity, telomeropathies are often unrecognised and misdiagnosed. Herein, we report a novel TERT gene variant, c.2605G > A p.(Asp869Asn) in a family with hereditary aplastic anaemia. This report emphasises the importance of routine deep genetic screening for rare TERT variants in patients with a family history of cytopenia or aplastic anaemia, which could identify clinically inapparent telomere disorders.
端粒酶逆转录酶（TERT）编码端粒酶逆转录酶，是端粒病患者中最常发生突变的基因。杂合子变体通过单倍体缺陷损害端粒酶活性，致病变体与骨髓衰竭综合征和易患急性髓性白血病有关。由于其罕见性，端粒病常被忽视和误诊。在此，我们报告了一个遗传性再生障碍性贫血家族中的新型 TERT 基因变异，c.2605G > A p. (Asp869Asn)。该报告强调了对有细胞减少症或再生障碍性贫血家族史的患者进行罕见 TERT 变异的常规深度基因筛查的重要性，这可能会发现临床上不明显的端粒疾病。
期刊介绍：
In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers.
Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician.
The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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