Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.
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DOI：
10.3892/mmr.2017.6425
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发表时间：
2017-06
影响因子：
3.4
通讯作者：
Cui WT
中科院分区：
文献类型：
--
作者：
Wang YP;Wang DJ;Niu ZB;Cui WT
13号染色体长臂上的部分缺失导致许多不同的表型，这取决于缺失区域的大小和位置。本文报告2例13 qter缺失综合征患者，临床表现为肛门闭锁伴直肠会阴瘘、复杂型先天性心脏病、食管裂孔疝伴胃食管反流、颜面畸形及发育智力低下。阵列比较基因组杂交鉴定了染色体13 q31-qter上的2个缺失区域;患者1和患者2分别在13q31.3-qter中20.38 Mb和13q33.1-qter中12.99 Mb。本研究中观察到的结果与以前研究中从患者中获得的结果之间的比较表明，位于13 q33.3-q34区域的编码ephrin B2（EFNB 2）的基因和位于13 q22.1 -31.3区域的编码内皮素受体B型的基因可能是所观察到的泌尿生殖/肛门直肠异常的合适的候选基因。此外，13q31.3区域中的microRNA-17- 92 a-1簇宿主基因和磷脂酰肌醇蛋白聚糖6基因，以及13q33.1-q34区域中的EFNB 2和IV型胶原α 1链（COL 4A 1）和COL 4A 2基因可能共同促进心血管疾病的发展。因此，这些基因可能参与13 q缺失综合征患者复杂型先天性心脏病的发病机制。
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31-qter; 20.38 Mb in 13q31.3-qter and 12.99 Mb in 13q33.1-qter in patients 1 and 2, respectively. Comparisons between the results observed in the present study and those obtained from patients in previous studies indicate that the gene encoding ephrin B2 (EFNB2) located in the 13q33.3-q34 region, and the gene coding for endothelin receptor type B, in the 13q22.1–31.3 region, may be suitable candidate genes for the observed urogenital/anorectal anomalies. In addition, the microRNA-17-92a-1 cluster host gene and the glypican 6 gene in the 13q31.3 region, as well as EFNB2 and the collagen type IV a1 chain (COL4A1) and COL4A2 genes in the 13q33.1-q34 region may together contribute to cardiovascular disease development. It is therefore possible that these genes may be involved in the pathogenesis of complex type congenital heart disease in patients with 13q deletion syndrome.