Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a necessary step of molecular diagnostics in patients with deletions and in the patients’ parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, as well as to provide prenatal and/or preimplantation diagnostics. DNA samples were obtained from the proband (a 2-year-old boy) and his two healthy parents. Molecular analysis revealed a 977.065 kb deletion that removed loci of the ELP4, PAX6, and RCN1 genes but did not affect the coding sequence of the WT1 gene. The deletion occurred de novo on the paternal allele. The patient had normal karyotype 46,XY and a de novo pericentric inversion of chromosome 11, inv(11)(p13q14). We confirmed the diagnosis of congenital aniridia at the molecular level. For the patient, the risk of developing Wilms’ tumor is similar to that in the general population. The recurrence risk for sibs in the family is low, but considering the possibility of gonadal mosaicism, it is higher than in the general population.

中文翻译：

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由与 11p13 区域 977 kb 缺失相关的中心倒位 inv(11)(p13q14) 引起的先天性无虹膜的散发病例。

由于在先天性无虹膜中检测到的从头突变中显着发生“WAGR 区”缺失，DNA 诊断对于所有散发性无虹膜病例至关重要，因为它有助于早期诊断 WAGR 综合征。标准细胞遗传核型研究是缺失患者和患者父母分子诊断的必要步骤，因为它揭示了复杂的染色体重排和另一个受影响孩子的风险，以及提供产前和/或植入前诊断。DNA 样本来自先证者（一个 2 岁男孩）和他的两个健康父母。分子分析揭示了一个 977.065 kb 的缺失，删除了 ELP4、PAX6 和 RCN1 基因的基因座，但不影响 WT1 基因的编码序列。缺失发生在父本等位基因上。该患者具有正常的核型 46,XY 和 11 号染色体 inv(11)(p13q14) 的从头中心着丝粒倒位。我们在分子水平上确认了先天性无虹膜的诊断。对于患者而言，发生维尔姆斯瘤的风险与一般人群相似。家族中同胞的复发风险较低，但考虑到性腺嵌合的可能性，高于一般人群。