Background

Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome. Genetic abnormalities have been shown to account for 80% of cases in bilateral anophthalmia or severe microphthalmia, where 25–30% were attributed to chromosomal defects in this subset of MAC patients. To date, chromosome 9 short arm (9p) abnormalities have not been shown to associate with development of MAC.

Purpose

To report a case of MAC spectrum disorder that is related to 9p deletion and duplication.

Materials and Methods

A child who exhibited signs of MAC was evaluated retrospectively. Genetic analysis with comparative genomic hybridization (CGH) and a family pedigree was obtained from the proband.

Results

A 3-year-old girl with a history of an atrial septal defect, a horseshoe kidney and global developmental delay was presented. Ophthalmic examination revealed bilateral iris coloboma, bilateral choroidal-retinal coloboma, and left-sided microphthalmia. Subsequent oligonucleotide-based array CGH revealed two different sites of duplication and deletion on 9p (9p24.3 (209020_1143516)x1, 9p24.3p24.1 (1158662_6395264)x3).

Conclusion

We present the first case of MAC spectrum disorder that is related to 9p deletion and duplication. The link between the associated genetic abnormality and the phenotypic features is yet to be established. Duplication of JAK2 gene, which is within the same region of abnormalities, may have potentiated the development of MAC spectrum disease.

中文翻译：

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鉴定JAK2与9p缺失和重复的儿童小眼症，无眼症和结肠癌（MAC）复合体发展的可能关联。

背景

小眼症，无眼症，大疱性淋巴瘤（MAC）复合物是一系列眼部异常，它们是单独发生或作为综合症的一部分而发生的。遗传异常已显示出占双侧性失语症或重度小眼症病例的80％，其中25％至30％归因于该MAC患者亚组中的染色体缺陷。迄今为止，尚未显示9号染色体短臂（9p）异常与MAC的发展有关。

目的

报告与9p缺失和重复有关的MAC频谱异常的情况。

材料和方法

回顾性评估显示MAC征象的儿童。从先证者获得了具有比较基因组杂交（CGH）和家谱的遗传分析。

结果

介绍了一个有房间隔缺损，马蹄肾和整体发育迟缓病史的3岁女孩。眼科检查发现双侧虹膜虹膜淋巴瘤，双侧脉络膜-视网膜淋巴瘤和左侧微眼球。随后的基于寡核苷酸的阵列CGH在9p（9p24.3（209020_1143516）x1、9p24.3p24.1（1158662_6395264）x3）上显示了两个不同的重复和缺失位点。

结论

我们介绍了与9p删除和重复相关的MAC频谱疾病的第一例。相关的遗传异常与表型特征之间的联系尚待建立。在异常的相同区域内的JAK2基因的重复可能增强了MAC频谱疾病的发展。