Ding Fengjuan, Hou Fei, Zhao Bowen, Jin Hua
Department of Prenatal Diagnosis, Jinan Maternity and Child Care Hospital Affiliated Shandong First Medical University, Jinan, Shandong, China.
Front Genet. 2025 Mar 12;16:1531832. doi: 10.3389/fgene.2025.1531832. eCollection 2025.
Cockayne syndrome (CS) is a multisystem degenerative disorder in which dysplasia and microcephaly represent the primary criteria for diagnosis. we present the cases of two patients who exhibited distinctive facial features and a range of other clinical manifestations, including growth failure, developmental delay, microcephaly, dental anomalies, and unstable gait.
Clinical information pertaining to the patient's family was collated and the Pedigree chart was drawn. Two milliliters of peripheral blood were drawn from each of the two patients (III1and III3) and their parents, The causative genes were identified by Medical exome sequencing. Furthermore, the pregnant women underwent amniotic fluid prenatal diagnosis at mid-pregnancy (III5).
Medical exome sequencing revealed that both patients had a homozygous deletion of Exon4 in the ERCC8 gene and that both parents were carriers. Prenatal diagnosis by amniotic fluid confirmed that the fetus (III5) did not carry the variant.
This clarified the diagnosis at the genetic level, deepened our understanding of the disease, and facilitated the ability to provide accurate genetic counseling and prenatal diagnosis, with the goal of reducing the number of new affected individuals in the family.
科凯恩综合征（CS）是一种多系统退行性疾病，其中发育异常和小头畸形是主要诊断标准。我们报告了两名患者的病例，他们表现出独特的面部特征和一系列其他临床表现，包括生长发育迟缓、小头畸形、牙齿异常和步态不稳。
整理患者家族的临床信息并绘制系谱图。从两名患者（III1和III3）及其父母中各抽取2毫升外周血，通过医学外显子组测序鉴定致病基因。此外，孕妇在孕中期接受了羊水产前诊断（III5）。
医学外显子组测序显示，两名患者的ERCC8基因外显子4均存在纯合缺失，且父母均为携带者。羊水产前诊断证实胎儿（III5）未携带该变异。
这在基因水平上明确了诊断，加深了我们对该疾病的理解，并有助于提供准确的遗传咨询和产前诊断，目标是减少家族中新发受累个体的数量。
