PDF(Pubmed)
Abstract：
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 PAFAH1B1 (#601545), YWHAE (#605066), and CRK (#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 YWHAE and CRK 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.
摘要：
17p13是染色体区域,其特征在于由于导致多个缺失和复制事件的高基因密度导致的基因组不稳定性。17p13.3微重复综合征是一种罕见的疾病，仅在全球报告了40例病例，在Miller-Dieker染色体区域发现,呈现广泛的表型表现。通常,重复区域是从头的，大小从1.8到4.0Mbp不等。该区域的关键基因是PAFAH1B1（＃601545），YWHAE(#605066),和CRK（#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），导致不同的表型。在这份报告中,我们介绍了一例I类17p13.3微重复综合征，表现为单侧感觉神经性听力损失。寡核苷酸和SNP阵列比较基因组杂交(a-CGH)分析显示染色体17p13.3上大约121Kbp的重复,其包括YWHAE和CRK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,她有单侧感音神经性听力损失.有趣的是,WES分析未检测到与听力损失相关的任何基因突变。以上发现使我们提出听力损失是17p13.3重复综合征的表现。
