Bloom syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early-onset cancer and development of multiple malignancies. Loss-of-function variants of the BLM gene, which codes for a RecQ helicase, cause Bloom syndrome. We report a consanguineous family, with 2 siblings showing clinical signs of suspected chromosome breakage disorder. One of them developed recurrent malignant lymphoma during lifetime. We performed next-generation sequencing analysis, focusing on cancer predisposition syndromes. We identified a homozygous pathogenic nonsense variant c.1642C>T (p.Gln548*) in the BLM gene in the proband, associated with Bloom syndrome. Sanger sequencing validated the presence of a homozygous pathogenic variant in the proband and also in the brother with short stature. In this article, we will focus on the clinical presentation of the syndrome in this particular family as well as the characteristics of malignancies found in the proband.
Mol Syndromol 2020;11:73-82

中文翻译：

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身材矮小，恶性淋巴瘤复发和血缘起源患者的布鲁姆综合征的诊断。

布鲁姆综合征是一种常染色体隐性遗传疾病，其特征是产前和产后生长不足，光敏性皮肤变化，免疫缺陷，胰岛素抵抗以及早发型癌症和多发性恶性肿瘤发展的风险大大增加。BLM基因的功能丧失变异体（编码RecQ解旋酶）导致Bloom综合征。我们报告了一个近亲家庭，有2个兄弟姐妹表现出可疑染色体断裂疾病的临床体征。其中一人在终生发生复发性恶性淋巴瘤。我们进行了下一代测序分析，重点关注癌症易感综合征。我们在BLM中鉴定了纯合的致病性无意义变异c.1642C> T（p.Gln548 *）先证者中的基因，与布鲁姆综合征相关。Sanger测序验证了先证者和身材矮小的兄弟中存在纯合病原体变异。在本文中，我们将重点关注该特定家族中该综合征的临床表现以及先证者中发现的恶性肿瘤的特征。
Mol Syndromol 2020； 11：73-82