Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bone marrow failure, and high risk of cancer. The diagnosis is based on morphological and hematological abnormalities such as pancytopenia, macrocytic anaemia and progressive bone marrow failure. Genetic examination, often very complex, includes chromosomal breakage testing and mutational analysis. We present a child with clinical diagnosis of Fanconi anemia. Although morphological abnormalities of skin and bones were present from birth, diagnosis was only suspected at the age of 8. Chromosome breakage test in patient’s lymphocytes showed increased level of aberrations (gaps, chromatid breaks, chromosome breaks, radial figures and rearrangements) compared to control. Next generation sequencing revealed presence of two pathogenic variants in FANCA gene, one of which was not previously reported. The article provides additional supportive evidence that compound biallelic mutations of FANCA are associated with Fanconi anemia. It also illustrates the utility of combination of cytogenetic and molecular tests, together with detailed clinical evaluation in providing accurate diagnosis of Fanconi anemia. This report, to the best of our knowledge, describes the first fully diagnosed FA patient in Polish population.

中文翻译：

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波兰人群中首例完全诊断的范可尼贫血患者的新 FANCA 突变 - 病例报告。

范可尼贫血是一种罕见的遗传性疾病，由蛋白质产物参与复制、细胞周期控制和 DNA 修复的基因突变引起。它的特点是先天性畸形、骨髓衰竭和癌症的高风险。诊断基于形态学和血液学异常，例如全血细胞减少、大红细胞性贫血和进行性骨髓衰竭。基因检查通常非常复杂，包括染色体断裂测试和突变分析。我们介绍了一名临床诊断为范可尼贫血症的儿童。虽然从出生开始就存在皮肤和骨骼的形态异常，但仅在 8 岁时才怀疑诊断。患者淋巴细胞的染色体断裂试验显示异常水平增加（间隙、染色单体断裂、染色体断裂、径向数字和重新排列）与对照相比。下一代测序显示 FANCA 基因中存在两种致病变异，其中一种以前没有报道过。这篇文章提供了额外的支持性证据，证明 FANCA 的复合双等位基因突变与范可尼贫血有关。它还说明了细胞遗传学和分子检测相结合的效用，以及详细的临床评估在准确诊断范可尼贫血方面的作用。据我们所知，这份报告描述了波兰人群中第一位完全诊断出的 FA 患者。这篇文章提供了额外的支持性证据，证明 FANCA 的复合双等位基因突变与范可尼贫血有关。它还说明了细胞遗传学和分子检测相结合的效用，以及详细的临床评估在准确诊断范可尼贫血方面的作用。据我们所知，这份报告描述了波兰人群中第一位完全诊断出的 FA 患者。这篇文章提供了额外的支持性证据，证明 FANCA 的复合双等位基因突变与范可尼贫血有关。它还说明了细胞遗传学和分子检测相结合的效用，以及详细的临床评估在准确诊断范可尼贫血方面的作用。据我们所知，这份报告描述了波兰人群中第一位完全诊断出的 FA 患者。