Peng Ying, Liang Changbiao, Xi Hui, Yang Shuting, Hu Jiancheng, Pang Jialun, Liu Jing, Luo Yingchun, Tang Chengyuan, Xie Wanqin, Wang Hua
Department of Medical Genetics, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
Department of Health Care, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
Front Genet. 2021 Jul 30;12:699894. doi: 10.3389/fgene.2021.699894. eCollection 2021.
Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from unrelated Chinese families. Clinically, all the three cases were classified as classic CdLS based on the cardinal (distinctive facial features and limb malformations) and suggestive (developmental delay, growth retardation, microcephaly, hirsutism, etc.) manifestations. SNP array detected a novel heterozygous microdeletion of 0.2 Mb [arr[GRCh37]5p13.2(36848530_37052821) × 1] that spans the first 43 exons of in the fetus with nuchal translucency thickening in case 1. Whole-exome sequencing in family trios plus Sanger sequencing validation identified a heterozygous c.5566G>A (p.R1856G) mutation in the fetus with intrauterine growth retardation in case 2 and a novel heterozygous c.448dupA (p.S150Kfs23) mutation in the proband (an 8-month-old girl) in case 3. The cases presented in this study may serve as references for increasing our understanding of the mutation spectrum of in association with CdLS.
科妮莉亚·德朗热综合征（CdLS）是一种以多系统畸形为特征的遗传性疾病。该基因的突变占近60%的病例。本研究报告了来自无关中国家庭的3例CdLS的临床和遗传学发现。临床上，根据主要表现（独特的面部特征和肢体畸形）和提示性表现（发育迟缓、生长发育迟缓、小头畸形、多毛症等），这3例均被归类为典型CdLS。单核苷酸多态性阵列检测到1例颈项透明层增厚胎儿中存在一个新的0.2 Mb杂合微缺失[arr[GRCh37]5p13.2(36848530_37052821)×1]，该缺失跨越了该基因的前43个外显子。对家系三联体进行全外显子测序并经桑格测序验证，在2例宫内生长发育迟缓胎儿中发现了一个杂合的c.5566G>A（p.R1856G）突变，在3例先证者（一名8个月大女孩）中发现了一个新的杂合的c.448dupA（p.S150Kfs23）突变。本研究中的病例可为增进我们对与CdLS相关的该基因突变谱的理解提供参考。
