郑州大学学报（医学版）2026，Vol.61Issue(2)：161-163,3.DOI:10.13705/j.issn.1671-6825.2025.04.075
WDR13基因缺失致智力障碍孕妇一例遗传学分析及产前诊断
Genetic analysis and prenatal diagnosis of a pregnant woman with intel-lectual disability caused by WDR13 gene deletion
摘要
Abstract
Aim:To investigate the genetic etiology of a pregnant woman with intellectual disability and to perform pre-natal diagnosis.Methods:In February 2022,a pregnant woman with intellectual disability who visited the First Affiliated Hospital of Zhengzhou University was enrolled.Peripheral blood samples(2 mL each)were collected from the patient and her parents.Whole exome sequencing was performed to screen for pathogenic variants,and fluorescence quantitative PCR was used for family validation.Chorionic villus sampling was conducted at 12 weeks of gestation for prenatal diagnosis.Re-sults:The patient presented with intellectual disability as the main clinical manifestation.Whole exome sequencing revealed a 131.451 kb heterozygous deletion in the chromosome Xp11.23 region,which encompassed the Wiskott-Aldrich syndrome gene and the WD repeat domain 13(WDR13)gene.Fluorescence quantitative PCR confirmed the deletion of the WDR13 gene.Prenatal diagnosis indicated a male fetus without the WDR13 gene deletion.Follow-up until 1.5 years of age revealed no abnormal phenotypes.Conclusion:The deletion of the WDR13 gene is the genetic etiology of intellectual disability in this case.关键词
WD 重复结构域13 基因/全外显子组测序/智力障碍/产前诊断Key words
WD repeat domain 13 gene/whole exome sequencing/intellectual disability/prenatal diagnosis分类
医药卫生引用本文复制引用
佘明聪,赵学潮,刘永超,时盼来,孔祥东..WDR13基因缺失致智力障碍孕妇一例遗传学分析及产前诊断[J].郑州大学学报（医学版）,2026,61(2):161-163,3.基金项目
国家重点研发计划项目(2018YFC1002203) （2018YFC1002203）
