MicroGenome, 25th Martiou 55 Str., 564 29 Thessaloniki, Greece.
Genotypos Science Labs Medical SA, 3-5 Ilision Str., 115 28 Athens, Greece.
Genes (Basel). 2023 Jun 24;14(7):1333. doi: 10.3390/genes14071333.
17p13 is a chromosomal region characterized by genomic instability due to high gene density leading to multiple deletion and duplication events. 17p13.3 microduplication syndrome is a rare condition, reported only in 40 cases worldwide, which is found in the Miller-Dieker chromosomal region, presenting a wide range of phenotypic manifestations. Usually, the duplicated area is de novo and varies in size from 1.8 to 4.0 Mbp. Critical genes for this region are (#601545), (#605066), and (#164762). 17p13.3 microduplication syndrome can be categorized into two classes (Class I and Class II) based on the genes that are present in the duplicated area, which lead to different phenotypes. In this report, we present a new case of Class I 17p13.3 microduplication syndrome that presents with unilateral sensorineural hearing loss. Oligonucleotide and SNP array comparative genomic hybridization (a-CGH) analysis revealed a duplication of approximately 121 Kbp on chromosome 17p13.3, which includes and genes. Whole-exome sequencing (WES) analysis confirmed the duplication. Our patient has common clinical symptoms of Class I 17p13.3 microduplication syndrome, and in addition, she has unilateral sensorineural hearing loss. Interestingly, WES analysis did not detect any mutations in genes that are associated with hearing loss. The above findings lead us to propose that hearing loss is a manifestation of 17p13.3 duplication syndrome.
17p13 是一个染色体区域，由于基因密度高，导致多次缺失和重复事件，因此具有基因组不稳定性。17p13.3 微重复综合征是一种罕见的疾病，仅在全球范围内报道了 40 例，位于 Miller-Dieker 染色体区域，表现出广泛的表型表现。通常，重复区域是从头发生的，大小从 1.8 到 4.0 Mbp 不等。该区域的关键基因包括 (#601545)、(#605066) 和 (#164762)。17p13.3 微重复综合征可以根据重复区域中存在的基因分为两类（I 类和 II 类），这导致了不同的表型。在本报告中，我们提出了一个新的 I 类 17p13.3 微重复综合征病例，表现为单侧感音神经性听力损失。寡核苷酸和 SNP 阵列比较基因组杂交（a-CGH）分析显示，17p13.3 上存在约 121 Kbp 的重复，包括 和 基因。全外显子组测序（WES）分析证实了重复。我们的患者具有 I 类 17p13.3 微重复综合征的常见临床症状，此外，她还患有单侧感音神经性听力损失。有趣的是，WES 分析未发现与听力损失相关的基因发生任何突变。上述发现使我们提出听力损失是 17p13.3 重复综合征的一种表现。
