Chen Feifei, Lei Tingying, Fu Fang, Li Ru, Zhang Yongling, Jing Xiangyi, Yang Xin, Han Jin, Zhen Li, Pan Min, Liao Can
Department of Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):752-757. doi: 10.3760/cma.j.issn.1003-9406.2016.06.002.
To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA).
Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software.
Conventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes.
CMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.
通过染色体微阵列分析（CMA）探讨多囊性发育不良肾（MCDK）胎儿的遗传病因。
采用传统细胞遗传学技术对72例MCDK胎儿进行分析，其中30例核型正常的胎儿按照制造商的方案，使用Affymetrix CytoScan HD芯片进行CMA分析。数据用ChAS软件进行分析。
传统细胞遗传学技术发现3例胎儿（4.2%）存在可识别的染色体畸变。CMA分析在5例胎儿（16.7%）中检测到致病性拷贝数变异（CNV），其中包括两种已知的微缺失或微重复综合征，即17q12微缺失综合征和威廉姆斯-博伦综合征（WBS），以及4q35.2、22q13.33和1p33处的三个亚显微失衡。PEX26、FKBP6、TUBGCP6、ALG12和CYP4A11可能是致病基因。
CMA能够识别传统细胞遗传学技术无法识别的亚显微失衡，因此在产前诊断和遗传咨询中具有重要作用。通过CMA检测，MCDK胎儿中致病性CNV的检出率为16.7%。17q12微缺失综合征和WBS与MCDK有关。PEX26、FKBP6、TUBGCP6、ALG12和CYP4A11基因的突变可能是MCDK的病因。
