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首页> 外文期刊>Molecular syndromology >First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642CT (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis
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First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642CT (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

机译：俄罗斯前两例布卢姆综合症：BLM中缺乏皮肤表现c.1642C> T（p.Q548X）纯合子可能是诊断不足的原因

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Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2–0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity. Here, we present 2 cases of BS, which were missed by standard genetic counseling and were eventually identified entirely due to chance. Our patients show the need for further investigations to confirm whether the atypical appearance of BS is indeed characteristic for biallelic carriers of the c.1642C>T (p.Q548X) allele and whether the absence of skin manifestations contributes to the underdiagnosis of the disease in Russia. Therefore, we suggest that all Slavic patients with only one single clinical feature of BS are to be screened for this allele and subjected to further analysis wherever appropriate. In addition to identifying new BS patients, this effort will help to clarify the frequency of “atypical BS” with incomplete phenotypic manifestations.
机译：Bloom综合征（BS）是一种极为罕见的遗传性疾病。 BS的典型表现通常包括生长不足，特征性的面部外观，皮肤对紫外线辐射过敏以及对早发癌症的强烈诱因。我们之前曾描述过一种复发性BLM c.1642C> T（p.Q548X）突变，这种突变以杂合状态存在于0.2-0.6％的斯拉夫血统的个体中。尽管该创始等位基因的发生率很高，但尚未在斯拉夫种族患者中描述BS。在这里，我们介绍了2例BS病例，这些病例被标准的遗传咨询遗漏了，最终完全由于偶然而被确定。我们的患者显示有必要进行进一步研究，以确认BS的非典型外观是否确实是c.1642C> T（p.Q548X）等位基因的双等位基因携带者的特征，以及缺乏皮肤表现是否会导致该病的诊断不足。俄国。因此，我们建议对所有仅有一个BS临床特征的斯拉夫患者进行此等位基因筛查，并在适当情况下进行进一步分析。除了确定新的BS患者外，这项工作还将有助于阐明具有不完整表型表现的“非典型BS”的发生频率。

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